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Additional findings_Adult v0.166 ACTA2 Tommy Li edited their review of gene: ACTA2: Changed rating: GREEN
Additional findings_Adult v0.166 ACTA2 Tommy Li reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.1901 ABCC6 Katrina Bell Deleted their comment
Mendeliome v1.1901 ABCC6 Katrina Bell Classified gene: ABCC6 as Green List (high evidence)
Mendeliome v1.1901 ABCC6 Katrina Bell Added comment: Comment on list classification: katrina bell blah blah
Mendeliome v1.1901 ABCC6 Katrina Bell Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v1.1901 ABCC6 Katrina Bell Classified gene: ABCC6 as Green List (high evidence)
Mendeliome v1.1901 ABCC6 Katrina Bell Added comment: Comment on list classification: katrina bell blah blah
Mendeliome v1.1901 ABCC6 Katrina Bell Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v1.1900 ABCA1 Katrina Bell Deleted their comment
Mendeliome v1.1900 ABCA1 Katrina Bell Added comment: Comment on phenotypes: asdasfcd
Mendeliome v1.1900 ABCA1 Katrina Bell Phenotypes for gene: ABCA1 were changed from Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091 to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091
Mendeliome v1.1899 ABCA1 Katrina Bell Classified gene: ABCA1 as Green List (high evidence)
Mendeliome v1.1899 ABCA1 Katrina Bell Added comment: Comment on list classification: fsfdeswfd
Mendeliome v1.1899 ABCA1 Katrina Bell Classified gene: ABCA1 as Green List (high evidence)
Mendeliome v1.1899 ABCA1 Katrina Bell Added comment: Comment on list classification: fsfdeswfd
Mendeliome v1.1899 ABCA1 Katrina Bell Gene: abca1 has been classified as Green List (High Evidence).
Mendeliome v1.1899 ABCA1 Katrina Bell Gene: abca1 has been classified as Green List (High Evidence).
Mendeliome v1.1898 ABCA1 Katrina Bell Classified gene: ABCA1 as Green List (high evidence)
Mendeliome v1.1898 ABCA1 Katrina Bell Added comment: Comment on list classification: fsfdeswfd
Mendeliome v1.1898 ABCA1 Katrina Bell Gene: abca1 has been classified as Green List (High Evidence).
Mendeliome v1.1897 ABCA1 Katrina Bell Deleted their comment
Mendeliome v1.1897 ABCA1 Katrina Bell Deleted their comment
Mendeliome v1.1897 ABCA1 Katrina Bell Deleted their comment
Mendeliome v1.1897 ABCA1 Katrina Bell Classified gene: ABCA1 as Amber List (moderate evidence)
Mendeliome v1.1897 ABCA1 Katrina Bell Added comment: Comment on list classification: bdsbbdb db sdfb
Mendeliome v1.1897 ABCA1 Katrina Bell Gene: abca1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1896 ABCA1 Katrina Bell Added comment: Comment on publications: x x vxc v x
Mendeliome v1.1896 ABCA1 Katrina Bell Publications for gene: ABCA1 were set to 10431237; 10431236
Mendeliome v1.1896 ABCA1 Katrina Bell Added comment: Comment on publications: x x vxc v x
Mendeliome v1.1896 ABCA1 Katrina Bell Publications for gene: ABCA1 were set to 10431237; 10431236
Mendeliome v1.1895 ABCA1 Katrina Bell Classified gene: ABCA1 as Amber List (moderate evidence)
Mendeliome v1.1895 ABCA1 Katrina Bell Added comment: Comment on list classification: bdsbbdb db sdfb
Mendeliome v1.1895 ABCA1 Katrina Bell Gene: abca1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1895 ABCA1 Katrina Bell Added comment: Comment on publications: x x vxc v x
Mendeliome v1.1895 ABCA1 Katrina Bell Publications for gene: ABCA1 were set to 10431237; 10431236
Mendeliome v1.1894 ABCA1 Katrina Bell Classified gene: ABCA1 as Amber List (moderate evidence)
Mendeliome v1.1894 ABCA1 Katrina Bell Added comment: Comment on list classification: bdsbbdb db sdfb
Mendeliome v1.1894 ABCA1 Katrina Bell Gene: abca1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1894 ABCA1 Katrina Bell Classified gene: ABCA1 as Amber List (moderate evidence)
Mendeliome v1.1894 ABCA1 Katrina Bell Added comment: Comment on list classification: bdsbbdb db sdfb
Mendeliome v1.1894 ABCA1 Katrina Bell Gene: abca1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1894 ABCA1 Katrina Bell Mode of inheritance for gene: ABCA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v1.1893 ABCA1 Katrina Bell Added comment: Comment on mode of pathogenicity: cznjc n jzklcv jlcxzjcv lbzjxkc lbzjcl bjkz
Mendeliome v1.1893 ABCA1 Katrina Bell Mode of pathogenicity for gene: ABCA1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v1.1893 ABCA1 Katrina Bell Added comment: Comment on mode of pathogenicity: cznjc n jzklcv jlcxzjcv lbzjxkc lbzjcl bjkz
Mendeliome v1.1893 ABCA1 Katrina Bell Mode of pathogenicity for gene: ABCA1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v1.1892 ABCA1 Katrina Bell Added comment: Comment on mode of pathogenicity: cznjc n jzklcv jlcxzjcv lbzjxkc lbzjcl bjkz
Mendeliome v1.1892 ABCA1 Katrina Bell Mode of pathogenicity for gene: ABCA1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v1.1891 ABCA1 Katrina Bell commented on gene: ABCA1
BabyScreen+ newborn screening v1.114 ZNF674 Tommy Li Added phenotypes Mental retardation for gene: ZNF674
BabyScreen+ newborn screening v1.114 ZNF469 Tommy Li Added phenotypes Brittle cornea syndrome MIM#229200 for gene: ZNF469
BabyScreen+ newborn screening v1.114 ZNF252P Tommy Li Added phenotypes Hypothyroidism for gene: ZNF252P
BabyScreen+ newborn screening v1.114 ZNF143 Tommy Li Added phenotypes Combined methylmalonic acidemia and homocystinuria, cblX like 1 for gene: ZNF143
BabyScreen+ newborn screening v1.114 ZMPSTE24 Tommy Li Added phenotypes Restrictive dermopathy 1, MIM# MIM:275210 for gene: ZMPSTE24
BabyScreen+ newborn screening v1.114 ZIC3 Tommy Li Added phenotypes X linked heterotaxy and congenital heart defects MIM:306955 for gene: ZIC3
BabyScreen+ newborn screening v1.114 ZIC2 Tommy Li Added phenotypes Holoprosencephaly MIM#603073 for gene: ZIC2
BabyScreen+ newborn screening v1.114 ZFPM2 Tommy Li Added phenotypes Tetralogy of Fallot for gene: ZFPM2
BabyScreen+ newborn screening v1.114 ZEB2 Tommy Li Added phenotypes Mowat-Wilson syndrome MIM# 235730 for gene: ZEB2
BabyScreen+ newborn screening v1.114 YARS2 Tommy Li Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia for gene: YARS2
BabyScreen+ newborn screening v1.114 WRN Tommy Li Added phenotypes Werner syndrome MIM#277700 for gene: WRN
BabyScreen+ newborn screening v1.114 WRAP53 Tommy Li Added phenotypes Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 for gene: WRAP53
Publications for gene WRAP53 were updated from 32303682; 21205863; 29514627 to 32303682; 29514627; 21205863
BabyScreen+ newborn screening v1.114 WNT7A Tommy Li Added phenotypes Ulna and fibula absence of with severe limb deficiency for gene: WNT7A
BabyScreen+ newborn screening v1.114 WNT5A Tommy Li Added phenotypes Robinow syndrome for gene: WNT5A
BabyScreen+ newborn screening v1.114 WNT3 Tommy Li Added phenotypes Tetra-amelia, autosomal recessive for gene: WNT3
BabyScreen+ newborn screening v1.114 WFS1 Tommy Li Added phenotypes Wolfram syndrome MIM#222300 for gene: WFS1
Publications for gene WFS1 were updated from 20301750; 11317350; 20738327; 31337416 to 20738327; 11317350; 20301750; 31337416
BabyScreen+ newborn screening v1.114 WDR62 Tommy Li Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317 for gene: WDR62
BabyScreen+ newborn screening v1.114 WDR36 Tommy Li Added phenotypes Glaucoma for gene: WDR36
BabyScreen+ newborn screening v1.114 WDR35 Tommy Li Added phenotypes Cranioectodermal dysplasia for gene: WDR35
BabyScreen+ newborn screening v1.114 WDR19 Tommy Li Added phenotypes Nephronophthisis for gene: WDR19
BabyScreen+ newborn screening v1.114 VSX1 Tommy Li Added phenotypes Keratoconus for gene: VSX1
BabyScreen+ newborn screening v1.114 VPS53 Tommy Li Added phenotypes Progressive cerebello-cerebral atrophy for gene: VPS53
BabyScreen+ newborn screening v1.114 VPS33B Tommy Li Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis MIM#208085 for gene: VPS33B
Publications for gene VPS33B were updated from 15052268; 15052268; 18853461 to 15052268; 18853461
BabyScreen+ newborn screening v1.114 VPS13B Tommy Li Added phenotypes Cohen syndrome MIM#216550 for gene: VPS13B
BabyScreen+ newborn screening v1.114 VPS13A Tommy Li Added phenotypes Choreoacanthocytosis MIM#200150 for gene: VPS13A
BabyScreen+ newborn screening v1.114 VLDLR Tommy Li Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050 for gene: VLDLR
BabyScreen+ newborn screening v1.114 VIPAS39 Tommy Li Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis MIM#613404 for gene: VIPAS39
BabyScreen+ newborn screening v1.114 VCP Tommy Li Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 for gene: VCP
BabyScreen+ newborn screening v1.114 VCAN Tommy Li Added phenotypes Wagner syndrome MIM#143200 for gene: VCAN
BabyScreen+ newborn screening v1.114 UTP4 Tommy Li Added phenotypes North American Indian childhood cirrhosis for gene: UTP4
BabyScreen+ newborn screening v1.114 UROD Tommy Li Added phenotypes Porphyria, hepatoerythropoietic MIM#176100 for gene: UROD
BabyScreen+ newborn screening v1.114 UQCRQ Tommy Li Added phenotypes Mitochondrial complex III deficiency for gene: UQCRQ
BabyScreen+ newborn screening v1.114 UQCRB Tommy Li Added phenotypes Mitochondrial complex III deficiency for gene: UQCRB
BabyScreen+ newborn screening v1.114 UMOD Tommy Li Added phenotypes Tubulointerstitial kidney disease MIM#162000 for gene: UMOD
BabyScreen+ newborn screening v1.114 UGT1A5 Tommy Li Added phenotypes UDP glucuronosyltransferase deficiency for gene: UGT1A5
BabyScreen+ newborn screening v1.114 UGT1A4 Tommy Li Added phenotypes Crigler-Najjar syndrome for gene: UGT1A4
BabyScreen+ newborn screening v1.114 UCP2 Tommy Li Added phenotypes Hyperinsulinism, ORPHA:276556; Hyperinsulinism for gene: UCP2
Publications for gene UCP2 were updated from 28681398; 27967291 to 27967291; 28681398
BabyScreen+ newborn screening v1.114 UBR1 Tommy Li Added phenotypes Johanson-Blizzard syndrome MIM#243800 for gene: UBR1
BabyScreen+ newborn screening v1.114 UBA1 Tommy Li Added phenotypes Spinal muscular atrophy, X-linked infantile for gene: UBA1
BabyScreen+ newborn screening v1.114 TYR Tommy Li Added phenotypes Oculocutaneous albinism type 1 MIM## 203100, # 606952 for gene: TYR
Publications for gene TYR were updated from 17980020; 33599182 to 33599182; 17980020
BabyScreen+ newborn screening v1.114 TYMP Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041 for gene: TYMP
Publications for gene TYMP were updated from 33825174; 20301358; 32980811; 26264513; 19371766 to 26264513; 20301358; 32980811; 19371766; 33825174
BabyScreen+ newborn screening v1.114 TWNK Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 for gene: TWNK
Publications for gene TWNK were updated from 16135556; 19304794; 17921179; 27551684; 12872260; 31823625 to 17921179; 16135556; 31823625; 19304794; 12872260; 27551684
BabyScreen+ newborn screening v1.114 TWIST1 Tommy Li Added phenotypes Sweeny-Cox syndrome, MIM# 617746; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Craniosynostosis 1, MIM# 123100; Robinow-Sorauf syndrome, MIM# 180750 for gene: TWIST1
Publications for gene TWIST1 were updated from 32487807; 32909287; 20301368 to 20301368; 32909287; 32487807
BabyScreen+ newborn screening v1.114 TUBB4B Tommy Li Added phenotypes Leber congenital amaurosis with early-onset deafness MIM#617879 for gene: TUBB4B
BabyScreen+ newborn screening v1.114 TUBA8 Tommy Li Added phenotypes Polymicrogyria with optic nerve hypoplasia for gene: TUBA8
BabyScreen+ newborn screening v1.114 TTR Tommy Li Added phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 for gene: TTR
Publications for gene TTR were updated from 20301373; 3032328; 29972753; 29972757 to 3032328; 29972753; 29972757; 20301373
BabyScreen+ newborn screening v1.114 TTC7A Tommy Li Added phenotypes Immunodeficiency, combined, with intestinal atresias, MIM#243150 for gene: TTC7A
Publications for gene TTC7A were updated from 30553809; 34975848; 33746097 to 34975848; 33746097; 30553809
BabyScreen+ newborn screening v1.114 TTC37 Tommy Li Added phenotypes Trichohepatoenteric syndrome 1, MIM#222470 for gene: TTC37
BabyScreen+ newborn screening v1.114 TTC21B Tommy Li Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820 for gene: TTC21B
Publications for gene TTC21B were updated from 25492405; 33875766; 18327258; 21258341; 33547761 to 33875766; 21258341; 25492405; 33547761; 18327258
BabyScreen+ newborn screening v1.114 TSR2 Tommy Li Added phenotypes Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946 for gene: TSR2
Publications for gene TSR2 were updated from 24942156; 11424144 to 24942156; 11424144
BabyScreen+ newborn screening v1.114 TSPYL1 Tommy Li Added phenotypes Sudden infant death with dysgenesis of the testes syndrome for gene: TSPYL1
BabyScreen+ newborn screening v1.114 TSPEAR Tommy Li Added phenotypes Sensorineural deafness for gene: TSPEAR
BabyScreen+ newborn screening v1.114 TSFM Tommy Li Added phenotypes Combined oxidative phosphorylation deficiency for gene: TSFM
BabyScreen+ newborn screening v1.114 TSEN54 Tommy Li Added phenotypes Pontocerebellar hypoplasia type 2A MIM#277470 for gene: TSEN54
BabyScreen+ newborn screening v1.114 TSC2 Tommy Li Added phenotypes Tuberous sclerosis 2, MIM#613254 for gene: TSC2
Publications for gene TSC2 were updated from 21309039; 11112665; 24053983; 20301399 to 11112665; 20301399; 21309039; 24053983
BabyScreen+ newborn screening v1.114 TSC1 Tommy Li Added phenotypes Tuberous sclerosis 1, MIM#191100 for gene: TSC1
BabyScreen+ newborn screening v1.114 TRPM2 Tommy Li Added phenotypes ALS and Parkinson's disease for gene: TRPM2
BabyScreen+ newborn screening v1.114 TRIP11 Tommy Li Added phenotypes Achondrogenesis type 1A for gene: TRIP11
BabyScreen+ newborn screening v1.114 TRIM37 Tommy Li Added phenotypes Mulibrey nanism MIM#253250 for gene: TRIM37
Publications for gene TRIM37 were updated from 7735507; 30586926 to 30586926; 7735507
BabyScreen+ newborn screening v1.114 TRIM32 Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 for gene: TRIM32
Publications for gene TRIM32 were updated from 21496629; 23142638 to 23142638; 21496629
BabyScreen+ newborn screening v1.114 TRH Tommy Li Added phenotypes Thyrotropin-releasing hormone deficiency for gene: TRH
BabyScreen+ newborn screening v1.114 TRAPPC2 Tommy Li Added phenotypes Spondyloepiphyseal dysplasia tarda MIM#313400 for gene: TRAPPC2
BabyScreen+ newborn screening v1.114 TRAC Tommy Li Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 for gene: TRAC
BabyScreen+ newborn screening v1.114 TPM3 Tommy Li Added phenotypes CAP myopathy 1, MIM# 609284; Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284 for gene: TPM3
Publications for gene TPM3 were updated from 26307083; 35668205 to 35668205; 26307083
BabyScreen+ newborn screening v1.114 TPM2 Tommy Li Added phenotypes Arthrgryposis MIM#108120; Nemaline myopathy MIM#609285 for gene: TPM2
BabyScreen+ newborn screening v1.114 TNXB Tommy Li Added phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency for gene: TNXB
BabyScreen+ newborn screening v1.114 TNNT3 Tommy Li Added phenotypes Arthrogryposis, distal MIM#618435 for gene: TNNT3
BabyScreen+ newborn screening v1.114 TNNT1 Tommy Li Added phenotypes Nemaline myopathy 5, Amish type MIM#605355 for gene: TNNT1
BabyScreen+ newborn screening v1.114 TNNI2 Tommy Li Added phenotypes Arthrogryposis, distal, type 2B1 MIM#601680 for gene: TNNI2
BabyScreen+ newborn screening v1.114 TNFRSF1A Tommy Li Added phenotypes Periodic fever, familial MIM#142680 for gene: TNFRSF1A
BabyScreen+ newborn screening v1.114 TNFRSF13C Tommy Li Added phenotypes Immunodeficiency, common variable, 4 MIM#613494 for gene: TNFRSF13C
BabyScreen+ newborn screening v1.114 TNFRSF13B Tommy Li Added phenotypes Immunodeficiency, common variable, 2 MIM#240500 for gene: TNFRSF13B
BabyScreen+ newborn screening v1.114 TNFAIP3 Tommy Li Added phenotypes Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744 for gene: TNFAIP3
BabyScreen+ newborn screening v1.114 TMPO Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: TMPO
BabyScreen+ newborn screening v1.114 TMEM67 Tommy Li Added phenotypes COACH syndrome MIM#216360; Nephronophthisis MIM#613550; Meckel syndrome MIM#607361; Joubert syndrome MIM#10688 for gene: TMEM67
BabyScreen+ newborn screening v1.114 TMEM43 Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 5 MIM#604400 for gene: TMEM43
Publications for gene TMEM43 were updated from 20301310; 34674311 to 34674311; 20301310
BabyScreen+ newborn screening v1.114 TMEM237 Tommy Li Added phenotypes Joubert syndrome for gene: TMEM237
BabyScreen+ newborn screening v1.114 TMEM216 Tommy Li Added phenotypes Joubert syndrome; Meckel syndrome for gene: TMEM216
BabyScreen+ newborn screening v1.114 TMC8 Tommy Li Added phenotypes Epidermodysplasia verruciformi for gene: TMC8
BabyScreen+ newborn screening v1.114 TJP2 Tommy Li Added phenotypes Hypercholanemia, familial for gene: TJP2
BabyScreen+ newborn screening v1.114 TIMM8A Tommy Li Added phenotypes Mohr-Tranebjaerg syndrome MIM#304700 for gene: TIMM8A
BabyScreen+ newborn screening v1.114 THRB Tommy Li Added phenotypes Thyroid hormone resistance, selective pituitary, MIM# 145650; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, MIM# 188570 for gene: THRB
BabyScreen+ newborn screening v1.114 THBS1 Tommy Li Added phenotypes Pulmonary hypertension for gene: THBS1
BabyScreen+ newborn screening v1.114 THBD Tommy Li Added phenotypes Haemolytic uraemic syndrome for gene: THBD
BabyScreen+ newborn screening v1.114 THAP11 Tommy Li Added phenotypes Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related for gene: THAP11
BabyScreen+ newborn screening v1.114 TGM5 Tommy Li Added phenotypes Peeling skin syndrome 2, MIM# 609796 for gene: TGM5
BabyScreen+ newborn screening v1.114 TGM1 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) for gene: TGM1
BabyScreen+ newborn screening v1.114 TGIF1 Tommy Li Added phenotypes Holoprosencephaly-4 for gene: TGIF1
BabyScreen+ newborn screening v1.114 TGFB1 Tommy Li Added phenotypes Camurati-Engelmann disease for gene: TGFB1
BabyScreen+ newborn screening v1.114 TFR2 Tommy Li Added phenotypes Hemochromatosis type 3 for gene: TFR2
BabyScreen+ newborn screening v1.114 TFG Tommy Li Added phenotypes Spastic paraplegia 57, autosomal recessive, MIM# 615658; Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 for gene: TFG
BabyScreen+ newborn screening v1.114 TFAP2B Tommy Li Added phenotypes Char syndrome, MIM 169100 for gene: TFAP2B
BabyScreen+ newborn screening v1.114 TFAP2A Tommy Li Added phenotypes Branchiooculofacial syndrome, MIM 107580 for gene: TFAP2A
BabyScreen+ newborn screening v1.114 TCTN3 Tommy Li Added phenotypes Joubert syndrome for gene: TCTN3
BabyScreen+ newborn screening v1.114 TCTN1 Tommy Li Added phenotypes Joubert syndrome for gene: TCTN1
BabyScreen+ newborn screening v1.114 TCOF1 Tommy Li Added phenotypes Treacher Collins syndrome 1, MIM# 154500 for gene: TCOF1
BabyScreen+ newborn screening v1.114 TCAP Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, dilated for gene: TCAP
BabyScreen+ newborn screening v1.114 TBX5 Tommy Li Added phenotypes Holt-Oram syndrome, MIM# 142900 for gene: TBX5
BabyScreen+ newborn screening v1.114 TBX20 Tommy Li Added phenotypes Congenital heart disease for gene: TBX20
BabyScreen+ newborn screening v1.114 TBX1 Tommy Li Added phenotypes DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430 for gene: TBX1
BabyScreen+ newborn screening v1.114 TBCE Tommy Li Added phenotypes Hypoparathyroidism retardation dysmorphism syndrome for gene: TBCE
BabyScreen+ newborn screening v1.114 TBC1D24 Tommy Li Added phenotypes DOORS syndrome MIM#220500 for gene: TBC1D24
BabyScreen+ newborn screening v1.114 TAZ Tommy Li Added phenotypes Barth syndrome, MIM#302060 for gene: TAZ
BabyScreen+ newborn screening v1.114 TARDBP Tommy Li Added phenotypes Amyotrophic lateral sclerosis type 10 for gene: TARDBP
BabyScreen+ newborn screening v1.114 TAB2 Tommy Li Added phenotypes Congenital heart disease, nonsyndromic for gene: TAB2
BabyScreen+ newborn screening v1.114 SYT14 Tommy Li Added phenotypes Spinocerebellar ataxia, autosomal recessive 11 for gene: SYT14
BabyScreen+ newborn screening v1.114 SYNE4 Tommy Li Added phenotypes Hearing loss for gene: SYNE4
BabyScreen+ newborn screening v1.114 SURF1 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 for gene: SURF1
BabyScreen+ newborn screening v1.114 SUFU Tommy Li Added phenotypes {Medulloblastoma} MIM#155255 for gene: SUFU
BabyScreen+ newborn screening v1.114 SUCLG1 Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 for gene: SUCLG1
BabyScreen+ newborn screening v1.114 SUCLA2 Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 for gene: SUCLA2
BabyScreen+ newborn screening v1.114 STXBP1 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 for gene: STXBP1
BabyScreen+ newborn screening v1.114 STS Tommy Li Added phenotypes Ichthyosis, X-linked, MIM# 308100 for gene: STS
BabyScreen+ newborn screening v1.114 STRA6 Tommy Li Added phenotypes Microphthalmia, syndromic 9, MIM# 601186 for gene: STRA6
BabyScreen+ newborn screening v1.114 STAC3 Tommy Li Added phenotypes Myopathy, congenital, Baily-Bloch, MIM# 255995 for gene: STAC3
BabyScreen+ newborn screening v1.114 ST3GAL5 Tommy Li Added phenotypes Amish infantile epilepsy syndrome for gene: ST3GAL5
BabyScreen+ newborn screening v1.114 ST14 Tommy Li Added phenotypes Ichthyosis hypotrichosis syndrome for gene: ST14
BabyScreen+ newborn screening v1.114 SRCAP Tommy Li Added phenotypes Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 for gene: SRCAP
BabyScreen+ newborn screening v1.114 SPTLC2 Tommy Li Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC for gene: SPTLC2
BabyScreen+ newborn screening v1.114 SPTB Tommy Li Added phenotypes Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 for gene: SPTB
BabyScreen+ newborn screening v1.114 SPTA1 Tommy Li Added phenotypes Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970 for gene: SPTA1
BabyScreen+ newborn screening v1.114 SPRED1 Tommy Li Added phenotypes Legius syndrome, MIM# 611431 for gene: SPRED1
BabyScreen+ newborn screening v1.114 SPINK5 Tommy Li Added phenotypes Netherton syndrome MIM# 256500 for gene: SPINK5
BabyScreen+ newborn screening v1.114 SPEG Tommy Li Added phenotypes Centronuclear myopathy 5, MIM# 615959 for gene: SPEG
Publications for gene SPEG were updated from 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540 to 30412272; 26578207; 29474540; 31625632; 28624463; 30157964; 29614691; 25087613
BabyScreen+ newborn screening v1.114 SPARC Tommy Li Added phenotypes Osteogenesis imperfecta, type XVII, MIM# 616507 for gene: SPARC
BabyScreen+ newborn screening v1.114 SOX9 Tommy Li Added phenotypes Campomelic dysplasia, MIM# 114290 for gene: SOX9
BabyScreen+ newborn screening v1.114 SOX18 Tommy Li Added phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome for gene: SOX18
BabyScreen+ newborn screening v1.114 SOX10 Tommy Li Added phenotypes Shah-Waardenburg syndrome for gene: SOX10
BabyScreen+ newborn screening v1.114 SORD Tommy Li Added phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912 for gene: SORD
BabyScreen+ newborn screening v1.114 SOD1 Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: SOD1
BabyScreen+ newborn screening v1.114 SNAP29 Tommy Li Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome for gene: SNAP29
BabyScreen+ newborn screening v1.114 SNAP25 Tommy Li Added phenotypes Neurodevelopmental disorder, MONDO:0700092, SNAP25-related for gene: SNAP25
BabyScreen+ newborn screening v1.114 SMPX Tommy Li Added phenotypes Deafness, X-linked 4, MIM# 300066 for gene: SMPX
BabyScreen+ newborn screening v1.114 SMO Tommy Li Added phenotypes Medulloblastoma for gene: SMO
BabyScreen+ newborn screening v1.114 SMC1A Tommy Li Added phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Cornelia de Lange syndrome 2, MIM# 300590 for gene: SMC1A
BabyScreen+ newborn screening v1.114 SMAD9 Tommy Li Added phenotypes Pulmonary arterial hypertension for gene: SMAD9
BabyScreen+ newborn screening v1.114 SMAD6 Tommy Li Added phenotypes Cardiovascular malformation, congenital for gene: SMAD6
BabyScreen+ newborn screening v1.114 SMAD4 Tommy Li Added phenotypes Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210 for gene: SMAD4
BabyScreen+ newborn screening v1.114 SMAD1 Tommy Li Added phenotypes Pulmonary arterial hypertension for gene: SMAD1
BabyScreen+ newborn screening v1.114 SLCO2A1 Tommy Li Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 for gene: SLCO2A1
Publications for gene SLCO2A1 were updated from 22331663; 27134495; 33852188; 23509104 to 22331663; 27134495; 33852188; 23509104
BabyScreen+ newborn screening v1.114 SLCO1B3 Tommy Li Added phenotypes Hyperbilirubinemia, Rotor type, digenic for gene: SLCO1B3
BabyScreen+ newborn screening v1.114 SLCO1B1 Tommy Li Added phenotypes Hyperbilirubinemia, Rotor type, digenic for gene: SLCO1B1
BabyScreen+ newborn screening v1.114 SLC9A6 Tommy Li Added phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 for gene: SLC9A6
BabyScreen+ newborn screening v1.114 SLC9A3R1 Tommy Li Added phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2 for gene: SLC9A3R1
BabyScreen+ newborn screening v1.114 SLC7A9 Tommy Li Added phenotypes Cystinuria, MIM# 220100 for gene: SLC7A9
BabyScreen+ newborn screening v1.114 SLC6A2 Tommy Li Added phenotypes Orthostatic intolerance for gene: SLC6A2
BabyScreen+ newborn screening v1.114 SLC6A19 Tommy Li Added phenotypes Hartnup disorder, MIM # 234500 for gene: SLC6A19
BabyScreen+ newborn screening v1.114 SLC5A2 Tommy Li Added phenotypes Renal glucosuria, MIM# 233100 for gene: SLC5A2
BabyScreen+ newborn screening v1.114 SLC4A4 Tommy Li Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 for gene: SLC4A4
BabyScreen+ newborn screening v1.114 SLC4A11 Tommy Li Added phenotypes Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 for gene: SLC4A11
BabyScreen+ newborn screening v1.114 SLC4A10 Tommy Li Added phenotypes Epilepsy & mental retardation for gene: SLC4A10
BabyScreen+ newborn screening v1.114 SLC45A2 Tommy Li Added phenotypes Albinism, oculocutaneous, type IV, MIM# 606574 for gene: SLC45A2
BabyScreen+ newborn screening v1.114 SLC41A1 Tommy Li Added phenotypes Nephronophthisis-like nephropathy 2, MIM# 619468 for gene: SLC41A1
BabyScreen+ newborn screening v1.114 SLC3A1 Tommy Li Added phenotypes Cystinuria, MIM# 220100 for gene: SLC3A1
BabyScreen+ newborn screening v1.114 SLC35D1 Tommy Li Added phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 for gene: SLC35D1
BabyScreen+ newborn screening v1.114 SLC35A1 Tommy Li Added phenotypes CDG syndrome type IIf for gene: SLC35A1
BabyScreen+ newborn screening v1.114 SLC34A2 Tommy Li Added phenotypes Pulmonary alveolar microlithiasis, MIM# 265100 for gene: SLC34A2
BabyScreen+ newborn screening v1.114 SLC33A1 Tommy Li Added phenotypes Congenital cataracts, hearing loss and low serum copper and ceruloplasmin; Spastic paraplegia, autosomal dominant for gene: SLC33A1
BabyScreen+ newborn screening v1.114 SLC2A10 Tommy Li Added phenotypes Arterial tortuosity syndrome MIM#208050 for gene: SLC2A10
BabyScreen+ newborn screening v1.114 SLC27A5 Tommy Li Added phenotypes Bile acid amidation defect for gene: SLC27A5
BabyScreen+ newborn screening v1.114 SLC27A4 Tommy Li Added phenotypes Ichthyosis prematurity syndrome, MIM#608649 for gene: SLC27A4
BabyScreen+ newborn screening v1.114 SLC26A2 Tommy Li Added phenotypes Achondrogenesis 1B, MIM#600972 for gene: SLC26A2
BabyScreen+ newborn screening v1.114 SLC25A4 Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 for gene: SLC25A4
BabyScreen+ newborn screening v1.114 SLC25A22 Tommy Li Added phenotypes Early myoclonic encephalopathy for gene: SLC25A22
BabyScreen+ newborn screening v1.114 SLC25A12 Tommy Li Added phenotypes Hypomyelination, global cerebral for gene: SLC25A12
BabyScreen+ newborn screening v1.114 SLC1A3 Tommy Li Added phenotypes Episodic ataxia, type 6 MIM#612656 for gene: SLC1A3
BabyScreen+ newborn screening v1.114 SLC17A5 Tommy Li Added phenotypes Sialic acid storage disorder, infantile, MIM# 269920 for gene: SLC17A5
BabyScreen+ newborn screening v1.114 SLC16A12 Tommy Li Added phenotypes Cataract, juvenile with microcornea and renal glucosuria for gene: SLC16A12
BabyScreen+ newborn screening v1.114 SLC13A5 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 for gene: SLC13A5
BabyScreen+ newborn screening v1.114 SLC12A6 Tommy Li Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800 for gene: SLC12A6
BabyScreen+ newborn screening v1.114 SLC12A5 Tommy Li Added phenotypes Febrile seizures for gene: SLC12A5
BabyScreen+ newborn screening v1.114 SLC12A3 Tommy Li Added phenotypes Gitelman syndrome, MIM# 263800 for gene: SLC12A3
BabyScreen+ newborn screening v1.114 SLC11A2 Tommy Li Added phenotypes Anemia, hypochromic microcytic for gene: SLC11A2
BabyScreen+ newborn screening v1.114 SKI Tommy Li Added phenotypes Shprintzen-Goldberg syndrome, MIM#182212 for gene: SKI
BabyScreen+ newborn screening v1.114 SIX5 Tommy Li Added phenotypes Branchiootorenal syndrome for gene: SIX5
BabyScreen+ newborn screening v1.114 SIX3 Tommy Li Added phenotypes Holoprosencephaly 2, MIM# 157170 for gene: SIX3
BabyScreen+ newborn screening v1.114 SIX2 Tommy Li Added phenotypes Renal hypodysplasia for gene: SIX2
BabyScreen+ newborn screening v1.114 SIX1 Tommy Li Added phenotypes Branchiootic syndrome 3, MIM# 608389 for gene: SIX1
BabyScreen+ newborn screening v1.114 SIL1 Tommy Li Added phenotypes Marinesco-Sjogren syndrome, MIM#248800 for gene: SIL1
BabyScreen+ newborn screening v1.114 SHOC2 Tommy Li Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2
BabyScreen+ newborn screening v1.114 SHH Tommy Li Added phenotypes Holoprosencephaly 3, MIM#142945 for gene: SHH
BabyScreen+ newborn screening v1.114 SHANK3 Tommy Li Added phenotypes Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652 for gene: SHANK3
Publications for gene SHANK3 were updated from 17173049; 30842224; 16284256; 20186804; 22892527 to 30842224; 16284256; 22892527; 17173049; 20186804
BabyScreen+ newborn screening v1.114 SH3TC2 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 4C MIM#601596 for gene: SH3TC2
BabyScreen+ newborn screening v1.114 SH3BP2 Tommy Li Added phenotypes Cherubism for gene: SH3BP2
BabyScreen+ newborn screening v1.114 SGCG Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 for gene: SGCG
BabyScreen+ newborn screening v1.114 SGCD Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 for gene: SGCD
BabyScreen+ newborn screening v1.114 SGCB Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 for gene: SGCB
BabyScreen+ newborn screening v1.114 SGCA Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 for gene: SGCA
BabyScreen+ newborn screening v1.114 SFTPC Tommy Li Added phenotypes Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 for gene: SFTPC
BabyScreen+ newborn screening v1.114 SFTPB Tommy Li Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 for gene: SFTPB
BabyScreen+ newborn screening v1.114 SFTPA2 Tommy Li Added phenotypes Pulmonary fibrosis, idiopathic for gene: SFTPA2
BabyScreen+ newborn screening v1.114 SETX Tommy Li Added phenotypes Spinocerebellar ataxia, autosomal recessive 1, 606002 for gene: SETX
BabyScreen+ newborn screening v1.114 SETBP1 Tommy Li Added phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 for gene: SETBP1
BabyScreen+ newborn screening v1.114 SERPING1 Tommy Li Added phenotypes Angioedema, hereditary, 1 and 2 MIM#106100 for gene: SERPING1
BabyScreen+ newborn screening v1.114 SERPIND1 Tommy Li Added phenotypes Heparin cofactor 2 deficiency for gene: SERPIND1
BabyScreen+ newborn screening v1.114 SERPINC1 Tommy Li Added phenotypes Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
BabyScreen+ newborn screening v1.114 SERPINB6 Tommy Li Added phenotypes Deafness, autosomal recessive for gene: SERPINB6
BabyScreen+ newborn screening v1.114 SERPINA1 Tommy Li Added phenotypes Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 for gene: SERPINA1
BabyScreen+ newborn screening v1.114 SEMA3A Tommy Li Added phenotypes Kallmann syndrome 1 for gene: SEMA3A
BabyScreen+ newborn screening v1.114 SELENON Tommy Li Added phenotypes Myopathy, congenital, with fiber-type disproportion, MIM# 255310 for gene: SELENON
BabyScreen+ newborn screening v1.114 SEC63 Tommy Li Added phenotypes Polycystic liver disease for gene: SEC63
BabyScreen+ newborn screening v1.114 SDHD Tommy Li Added phenotypes Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000 for gene: SDHD
BabyScreen+ newborn screening v1.114 SCP2 Tommy Li Added phenotypes Leukoencephalopathy - dystonia - motor neuropathy for gene: SCP2
BabyScreen+ newborn screening v1.114 SCO2 Tommy Li Added phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377 for gene: SCO2
BabyScreen+ newborn screening v1.114 SCO1 Tommy Li Added phenotypes Hepatic failure, early onset, and neurologic disorder for gene: SCO1
BabyScreen+ newborn screening v1.114 SCN8A Tommy Li Added phenotypes Developmental and epileptic encephalopathy 13, MIM#614558 for gene: SCN8A
BabyScreen+ newborn screening v1.114 SCN4B Tommy Li Added phenotypes Long QT syndrome for gene: SCN4B
BabyScreen+ newborn screening v1.114 SCN4A Tommy Li Added phenotypes Myasthenic syndrome, congenital, 16, MIM# 614198; Paramyotonia congenita , MIM#168300; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2, MIM# 170500; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Hypokalemic periodic paralysis, type 2, MIM# 613345 for gene: SCN4A
BabyScreen+ newborn screening v1.114 SCN3B Tommy Li Added phenotypes Brugada syndrome for gene: SCN3B
BabyScreen+ newborn screening v1.114 SCN3A Tommy Li Added phenotypes Epileptic encephalopathy, early infantile, 62, MIM# 617938 for gene: SCN3A
BabyScreen+ newborn screening v1.114 SCN2B Tommy Li Added phenotypes Atrial fibrillation for gene: SCN2B
BabyScreen+ newborn screening v1.114 SCN2A Tommy Li Added phenotypes Developmental and epileptic encephalopathy 11, MIM# 613721 for gene: SCN2A
BabyScreen+ newborn screening v1.114 SCN1B Tommy Li Added phenotypes Brugada syndrome for gene: SCN1B
BabyScreen+ newborn screening v1.114 SCN1A Tommy Li Added phenotypes Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403 for gene: SCN1A
BabyScreen+ newborn screening v1.114 SCN11A Tommy Li Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 for gene: SCN11A
BabyScreen+ newborn screening v1.114 SCARB2 Tommy Li Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900 for gene: SCARB2
BabyScreen+ newborn screening v1.114 SC5D Tommy Li Added phenotypes Lathosterolosis for gene: SC5D
BabyScreen+ newborn screening v1.114 SARS Tommy Li Added phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709 for gene: SARS
BabyScreen+ newborn screening v1.114 SALL1 Tommy Li Added phenotypes Townes-Brocks syndrome 1, MIM#107480 for gene: SALL1
BabyScreen+ newborn screening v1.114 SACS Tommy Li Added phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 for gene: SACS
BabyScreen+ newborn screening v1.114 RUNX2 Tommy Li Added phenotypes Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510 for gene: RUNX2
BabyScreen+ newborn screening v1.114 RSPH9 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 12 (MIM#612650) for gene: RSPH9
BabyScreen+ newborn screening v1.114 RSPH4A Tommy Li Added phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649) for gene: RSPH4A
BabyScreen+ newborn screening v1.114 RS1 Tommy Li Added phenotypes Retinoschisis, MIM#312700 for gene: RS1
BabyScreen+ newborn screening v1.114 RRM2B Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 for gene: RRM2B
BabyScreen+ newborn screening v1.114 RPS6KA3 Tommy Li Added phenotypes Coffin-Lowry syndrome MIM# 303600 for gene: RPS6KA3
BabyScreen+ newborn screening v1.114 RPS29 Tommy Li Added phenotypes Diamond-Blackfan anaemia 13, MIM# 615909 for gene: RPS29
BabyScreen+ newborn screening v1.114 RPS28 Tommy Li Added phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 for gene: RPS28
BabyScreen+ newborn screening v1.114 RPS27 Tommy Li Added phenotypes Diamond-Blackfan anaemia 17, MIM# 617409 for gene: RPS27
BabyScreen+ newborn screening v1.114 RPS15A Tommy Li Added phenotypes Diamond-Blackfan anaemia 20, MIM# 618313 for gene: RPS15A
BabyScreen+ newborn screening v1.114 RPS15 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related for gene: RPS15
BabyScreen+ newborn screening v1.114 RPL35 Tommy Li Added phenotypes Diamond-Blackfan anaemia 19 , MIM# 618312 for gene: RPL35
BabyScreen+ newborn screening v1.114 RPL27 Tommy Li Added phenotypes Diamond-Blackfan anaemia 16 , MIM# 617408 for gene: RPL27
BabyScreen+ newborn screening v1.114 RPL26 Tommy Li Added phenotypes Diamond-Blackfan anaemia 11 , MIM# 614900 for gene: RPL26
BabyScreen+ newborn screening v1.114 RPL18 Tommy Li Added phenotypes Diamond-Blackfan anaemia 18 , MIM# 618310 for gene: RPL18
BabyScreen+ newborn screening v1.114 RPGRIP1L Tommy Li Added phenotypes Nephronophthisis; COACH syndrome 3, MIM# 619113; Meckel syndrome 5, MIM# 611561; Joubert syndrome 7, MIM# 611560 for gene: RPGRIP1L
BabyScreen+ newborn screening v1.114 RPGR Tommy Li Added phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 for gene: RPGR
BabyScreen+ newborn screening v1.114 ROR2 Tommy Li Added phenotypes Robinow syndrome, autosomal recessive - MIM#268310 for gene: ROR2
BabyScreen+ newborn screening v1.114 RHAG Tommy Li Added phenotypes Rh-deficiency syndrome for gene: RHAG
BabyScreen+ newborn screening v1.114 RFX6 Tommy Li Added phenotypes Diabetes, neonatal, with intestinal atresia for gene: RFX6
BabyScreen+ newborn screening v1.114 RFWD3 Tommy Li Added phenotypes Fanconi anaemia, complementation group W, MIM# 617784 for gene: RFWD3
BabyScreen+ newborn screening v1.114 RETREG1 Tommy Li Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 for gene: RETREG1
Publications for gene RETREG1 were updated from 31737055; 31596031; 24327336; 19838196 to 19838196; 31737055; 31596031; 24327336
BabyScreen+ newborn screening v1.114 REN Tommy Li Added phenotypes Renal tubular dysgenesis, MIM# 267430 for gene: REN
BabyScreen+ newborn screening v1.114 RELN Tommy Li Added phenotypes Lissencephaly syndrome for gene: RELN
BabyScreen+ newborn screening v1.114 RECQL4 Tommy Li Added phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400 for gene: RECQL4
BabyScreen+ newborn screening v1.114 RBM8A Tommy Li Added phenotypes Thrombocytopenia-absent radius syndrome, MIM# 274000 for gene: RBM8A
BabyScreen+ newborn screening v1.114 RASA1 Tommy Li Added phenotypes Capillary malformation-arteriovenous malformation 1, MIM#608354 for gene: RASA1
BabyScreen+ newborn screening v1.114 RANGRF Tommy Li Added phenotypes Brugada syndrome for gene: RANGRF
BabyScreen+ newborn screening v1.114 RAI1 Tommy Li Added phenotypes Smith-Magenis syndrome (MIM#182290) for gene: RAI1
BabyScreen+ newborn screening v1.114 RAF1 Tommy Li Added phenotypes Noonan syndrome 5, MIM# 611553 for gene: RAF1
BabyScreen+ newborn screening v1.114 RAD51B Tommy Li Added phenotypes Breast and/or ovarian cancer for gene: RAD51B
BabyScreen+ newborn screening v1.114 RAB7A Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 for gene: RAB7A
BabyScreen+ newborn screening v1.114 RAB3GAP2 Tommy Li Added phenotypes Warburg micro syndrome 2, MIM# 614225 for gene: RAB3GAP2
BabyScreen+ newborn screening v1.114 RAB3GAP1 Tommy Li Added phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 for gene: RAB3GAP1
BabyScreen+ newborn screening v1.114 RAB23 Tommy Li Added phenotypes Carpenter syndrome (MIM#201000) for gene: RAB23
BabyScreen+ newborn screening v1.114 RAB10 Tommy Li Added phenotypes Congenital heart disease for gene: RAB10
BabyScreen+ newborn screening v1.114 PYGM Tommy Li Added phenotypes Glycogen storage disease, autosomal dominant; McArdle disease, MIM# 232600 for gene: PYGM
BabyScreen+ newborn screening v1.114 PTPN11 Tommy Li Added phenotypes Noonan syndrome 1, MIM# 163950 for gene: PTPN11
BabyScreen+ newborn screening v1.114 PTH1R Tommy Li Added phenotypes Chondrodysplasia, Blomstrand type MIM#215045; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 for gene: PTH1R
BabyScreen+ newborn screening v1.114 PTEN Tommy Li Added phenotypes Macrocephaly/autism syndrome, MIM# 605309; Cowden syndrome 1, MIM# 158350 for gene: PTEN
BabyScreen+ newborn screening v1.114 PSEN2 Tommy Li Added phenotypes Alzheimer disease, type 4 for gene: PSEN2
BabyScreen+ newborn screening v1.114 PSEN1 Tommy Li Added phenotypes Alzheimer disease, type 3 for gene: PSEN1
BabyScreen+ newborn screening v1.114 PSAT1 Tommy Li Added phenotypes Phosphoserine aminotransferase deficiency , MIM# 610992; Phosphoserine aminotransferase deficiency for gene: PSAT1
BabyScreen+ newborn screening v1.114 PSAP Tommy Li Added phenotypes Parkinson disease; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Combined SAP deficiency, MIM# 611721 for gene: PSAP
BabyScreen+ newborn screening v1.114 PRX Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900 for gene: PRX
BabyScreen+ newborn screening v1.114 PRRX1 Tommy Li Added phenotypes Agnathia-otocephaly complex for gene: PRRX1
BabyScreen+ newborn screening v1.114 PRPS1 Tommy Li Added phenotypes Arts syndrome; Charcot-Marie-Tooth disease for gene: PRPS1
BabyScreen+ newborn screening v1.114 PROS1 Tommy Li Added phenotypes Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336 for gene: PROS1
BabyScreen+ newborn screening v1.114 PROKR2 Tommy Li Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 for gene: PROKR2
BabyScreen+ newborn screening v1.114 PRODH Tommy Li Added phenotypes Hyperprolinemia, type I for gene: PRODH
BabyScreen+ newborn screening v1.114 PROC Tommy Li Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive (612304); Thrombophilia due to protein C deficiency, autosomal dominant (176860) for gene: PROC
BabyScreen+ newborn screening v1.114 PRKCSH Tommy Li Added phenotypes Polycystic liver disease for gene: PRKCSH
BabyScreen+ newborn screening v1.114 PRKAG2 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic; Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome for gene: PRKAG2
BabyScreen+ newborn screening v1.114 PRICKLE1 Tommy Li Added phenotypes Epilepsy, progressive myoclonic 1B for gene: PRICKLE1
BabyScreen+ newborn screening v1.114 PREPL Tommy Li Added phenotypes Hypotonia - cystinuria syndrome; Myasthenic syndrome, congenital, 22, MIM# 616224 for gene: PREPL
BabyScreen+ newborn screening v1.114 PRDM16 Tommy Li Added phenotypes Left ventricular noncompaction for gene: PRDM16
BabyScreen+ newborn screening v1.114 PQBP1 Tommy Li Added phenotypes Renpenning syndrome, MIM#309500 for gene: PQBP1
BabyScreen+ newborn screening v1.114 PPT1 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 for gene: PPT1
BabyScreen+ newborn screening v1.114 PPIB Tommy Li Added phenotypes Osteogenesis imperfecta, type IX, MIM# 259440 for gene: PPIB
Publications for gene PPIB were updated from 19781681; 32392875 to 32392875; 19781681
BabyScreen+ newborn screening v1.114 POU4F3 Tommy Li Added phenotypes Deafness, autosomal dominant 15, MIM# 602459 for gene: POU4F3
BabyScreen+ newborn screening v1.114 PORCN Tommy Li Added phenotypes Focal dermal hypoplasia, MIM#305600 for gene: PORCN
BabyScreen+ newborn screening v1.114 POMT2 Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2
BabyScreen+ newborn screening v1.114 POMT1 Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 for gene: POMT1
BabyScreen+ newborn screening v1.114 POMGNT1 Tommy Li Added phenotypes Retinitis pigmentosa 76, MIM# 617123; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 for gene: POMGNT1
BabyScreen+ newborn screening v1.114 POLH Tommy Li Added phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 for gene: POLH
BabyScreen+ newborn screening v1.114 POLG Tommy Li Added phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 for gene: POLG
Publications for gene POLG were updated from 30451971; 21880868 to 30451971; 21880868
BabyScreen+ newborn screening v1.114 PODXL Tommy Li Added phenotypes Focal and segmental glomerulosclerosis for gene: PODXL
BabyScreen+ newborn screening v1.114 PNPLA1 Tommy Li Added phenotypes Ichthyosis, autosomal recessive congenital for gene: PNPLA1
BabyScreen+ newborn screening v1.114 PNKP Tommy Li Added phenotypes Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402 for gene: PNKP
Publications for gene PNKP were updated from 27125728; 27066567; 27232581 to 27125728; 27232581; 27066567
BabyScreen+ newborn screening v1.114 PNKD Tommy Li Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 for gene: PNKD
BabyScreen+ newborn screening v1.114 PMP22 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Roussy-Levy syndrome 180800; Neuropathy, recurrent, with pressure palsies 162500; Dejerine-Sottas disease, MIM# 145900; Charcot-Marie-Tooth disease, type 1A, MIM# 118220 for gene: PMP22
BabyScreen+ newborn screening v1.114 PMM2 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 for gene: PMM2
Publications for gene PMM2 were updated from 30740725; 31636082 to 31636082; 30740725
BabyScreen+ newborn screening v1.114 PLP1 Tommy Li Added phenotypes Spastic paraplegia 2, X-linked MIM#312920; Pelizaeus-Merzbacher disease MIM#312080 for gene: PLP1
BabyScreen+ newborn screening v1.114 PLOD2 Tommy Li Added phenotypes Bruck syndrome 2, MIM# 609220 for gene: PLOD2
BabyScreen+ newborn screening v1.114 PLOD1 Tommy Li Added phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 for gene: PLOD1
BabyScreen+ newborn screening v1.114 PLN Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: PLN
BabyScreen+ newborn screening v1.114 PLEC Tommy Li Added phenotypes Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 for gene: PLEC
BabyScreen+ newborn screening v1.114 PLCE1 Tommy Li Added phenotypes Nephrotic syndrome, type 3, MIM# 610725 for gene: PLCE1
BabyScreen+ newborn screening v1.114 PLA2G6 Tommy Li Added phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600; Parkinson disease 14, autosomal recessive MIM#612953 for gene: PLA2G6
BabyScreen+ newborn screening v1.114 PKHD1 Tommy Li Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 for gene: PKHD1
BabyScreen+ newborn screening v1.114 PINK1 Tommy Li Added phenotypes Parkinson disease 6, early onset, MIM#605909 for gene: PINK1
BabyScreen+ newborn screening v1.114 PIK3CA Tommy Li Added phenotypes PIK3CA related overgrowth spectrum for gene: PIK3CA
Publications for gene PIK3CA were updated from 33392635; 33639990 to 33639990; 33392635
BabyScreen+ newborn screening v1.114 PIGA Tommy Li Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 for gene: PIGA
Publications for gene PIGA were updated from 32694024; 24706016; 26545172; 24357517; 33333793; 22305531 to 26545172; 24357517; 33333793; 24706016; 32694024; 22305531
BabyScreen+ newborn screening v1.114 PIEZO2 Tommy Li Added phenotypes Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, type 3 (MIM#114300); Marden-Walker syndrome (MIM#248700) for gene: PIEZO2
BabyScreen+ newborn screening v1.114 PHYH Tommy Li Added phenotypes Refsum disease, MIM# 266500 for gene: PHYH
BabyScreen+ newborn screening v1.114 PHOX2B Tommy Li Added phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880 for gene: PHOX2B
BabyScreen+ newborn screening v1.114 PHOX2A Tommy Li Added phenotypes Fibrosis of extraocular muscles, congenital for gene: PHOX2A
BabyScreen+ newborn screening v1.114 PHKA1 Tommy Li Added phenotypes Phosphorylase kinase deficiency for gene: PHKA1
BabyScreen+ newborn screening v1.114 PHF6 Tommy Li Added phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 for gene: PHF6
BabyScreen+ newborn screening v1.114 PFKM Tommy Li Added phenotypes Glycogen storage disease VII (MIM#232800) for gene: PFKM
BabyScreen+ newborn screening v1.114 PEX7 Tommy Li Added phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 for gene: PEX7
BabyScreen+ newborn screening v1.114 PEX6 Tommy Li Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) for gene: PEX6
BabyScreen+ newborn screening v1.114 PEX5 Tommy Li Added phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 for gene: PEX5
BabyScreen+ newborn screening v1.114 PEX3 Tommy Li Added phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 for gene: PEX3
BabyScreen+ newborn screening v1.114 PEX26 Tommy Li Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 for gene: PEX26
BabyScreen+ newborn screening v1.114 PEX2 Tommy Li Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 for gene: PEX2
BabyScreen+ newborn screening v1.114 PEX19 Tommy Li Added phenotypes Zellweger syndrome for gene: PEX19
BabyScreen+ newborn screening v1.114 PEX16 Tommy Li Added phenotypes Zellweger syndrome for gene: PEX16
BabyScreen+ newborn screening v1.114 PEX14 Tommy Li Added phenotypes Zellweger syndrome for gene: PEX14
BabyScreen+ newborn screening v1.114 PEX13 Tommy Li Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) for gene: PEX13
BabyScreen+ newborn screening v1.114 PEX12 Tommy Li Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) for gene: PEX12
BabyScreen+ newborn screening v1.114 PEX11B Tommy Li Added phenotypes Peroxisome biogenesis disorder for gene: PEX11B
BabyScreen+ newborn screening v1.114 PEX10 Tommy Li Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870) for gene: PEX10
BabyScreen+ newborn screening v1.114 PEX1 Tommy Li Added phenotypes Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100 for gene: PEX1
BabyScreen+ newborn screening v1.114 PDSS2 Tommy Li Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency; Coenzyme Q10 deficiency, primary, 3, MIM# 614652 for gene: PDSS2
BabyScreen+ newborn screening v1.114 PDSS1 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651; Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1
BabyScreen+ newborn screening v1.114 PDLIM3 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: PDLIM3
BabyScreen+ newborn screening v1.114 PDE4D Tommy Li Added phenotypes Acrodysostosis 2, with or without hormone resistance, MIM#614613 for gene: PDE4D
BabyScreen+ newborn screening v1.114 PDE11A Tommy Li Added phenotypes Adrenocortical hyperplasia for gene: PDE11A
BabyScreen+ newborn screening v1.114 PCNT Tommy Li Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 for gene: PCNT
BabyScreen+ newborn screening v1.114 PAX6 Tommy Li Added phenotypes Aniridia, OMIM 106210 for gene: PAX6
BabyScreen+ newborn screening v1.114 PAX5 Tommy Li Added phenotypes {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545 for gene: PAX5
BabyScreen+ newborn screening v1.114 PANK2 Tommy Li Added phenotypes Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200 for gene: PANK2
BabyScreen+ newborn screening v1.114 PAK3 Tommy Li Added phenotypes Mental retardation syndrome, X-linked 30, MIM#300558 for gene: PAK3
BabyScreen+ newborn screening v1.114 PABPN1 Tommy Li Added phenotypes Oculopharyngeal muscular dystrophy for gene: PABPN1
BabyScreen+ newborn screening v1.114 P2RY12 Tommy Li Added phenotypes Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354 for gene: P2RY12
Publications for gene P2RY12 were updated from 29117459; 11196645; 19237732; 12578987 to 29117459; 12578987; 19237732; 11196645
BabyScreen+ newborn screening v1.114 P2RX2 Tommy Li Added phenotypes Hearing loss for gene: P2RX2
BabyScreen+ newborn screening v1.114 OTUD4 Tommy Li Added phenotypes Hypogonadotropic hypogonadism, ataxia & dementia for gene: OTUD4
BabyScreen+ newborn screening v1.114 OSTM1 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720 for gene: OSTM1
BabyScreen+ newborn screening v1.114 OSMR Tommy Li Added phenotypes Amyloidosis, primary localized cutaneous, 1 - MIM#105250 for gene: OSMR
BabyScreen+ newborn screening v1.114 ORC6 Tommy Li Added phenotypes Meier-Gorlin syndrome for gene: ORC6
BabyScreen+ newborn screening v1.114 ORC4 Tommy Li Added phenotypes Meier-Gorlin syndrome for gene: ORC4
BabyScreen+ newborn screening v1.114 ORC1 Tommy Li Added phenotypes Meier-Gorlin syndrome 1, MIM# 224690 for gene: ORC1
BabyScreen+ newborn screening v1.114 OPA3 Tommy Li Added phenotypes 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract for gene: OPA3
BabyScreen+ newborn screening v1.114 OPA1 Tommy Li Added phenotypes Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR for gene: OPA1
BabyScreen+ newborn screening v1.114 OFD1 Tommy Li Added phenotypes Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200; Retinitis pigmentosa 23, MIM# 300424 for gene: OFD1
BabyScreen+ newborn screening v1.114 OCRL Tommy Li Added phenotypes Lowe syndrome , MIM#309000; Dent disease 2, MIM# 300555 for gene: OCRL
BabyScreen+ newborn screening v1.114 OCA2 Tommy Li Added phenotypes Albinism, oculocutaneous, type II, MIM# 203200; Albinism, brown oculocutaneous, MIM# 203200 for gene: OCA2
BabyScreen+ newborn screening v1.114 OBSL1 Tommy Li Added phenotypes 3-M syndrome 2, MIM #612921 for gene: OBSL1
BabyScreen+ newborn screening v1.114 NUP62 Tommy Li Added phenotypes Striatonigral degeneration, infantile for gene: NUP62
BabyScreen+ newborn screening v1.114 NUP155 Tommy Li Added phenotypes Atrial fibrillation for gene: NUP155
BabyScreen+ newborn screening v1.114 NUB1 Tommy Li Added phenotypes Congenital heart disease for gene: NUB1
BabyScreen+ newborn screening v1.114 NTRK1 Tommy Li Added phenotypes Congenital insensitivity to pain with anhidrosis MIM#256800 for gene: NTRK1
BabyScreen+ newborn screening v1.114 NSDHL Tommy Li Added phenotypes CHILD syndrome; CK syndrome for gene: NSDHL
BabyScreen+ newborn screening v1.114 NSD1 Tommy Li Added phenotypes Sotos syndrome 1, MIM# 117550 for gene: NSD1
BabyScreen+ newborn screening v1.114 NRXN1 Tommy Li Added phenotypes Autism for gene: NRXN1
BabyScreen+ newborn screening v1.114 NRG1 Tommy Li Added phenotypes Hirschsprung disease for gene: NRG1
BabyScreen+ newborn screening v1.114 NR1H4 Tommy Li Added phenotypes Cholestasis, infantile for gene: NR1H4
BabyScreen+ newborn screening v1.114 NPPA Tommy Li Added phenotypes Atrial fibrillation for gene: NPPA
BabyScreen+ newborn screening v1.114 NPHS1 Tommy Li Added phenotypes Nephrotic syndrome, type 1, MIM# 256300 for gene: NPHS1
BabyScreen+ newborn screening v1.114 NPHP4 Tommy Li Added phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 for gene: NPHP4
BabyScreen+ newborn screening v1.114 NPHP3 Tommy Li Added phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 for gene: NPHP3
BabyScreen+ newborn screening v1.114 NPHP1 Tommy Li Added phenotypes Senior-Loken syndrome-1, MIM# 266900; Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583 for gene: NPHP1
BabyScreen+ newborn screening v1.114 NOTCH3 Tommy Li Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310 for gene: NOTCH3
BabyScreen+ newborn screening v1.114 NOTCH2 Tommy Li Added phenotypes Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) for gene: NOTCH2
BabyScreen+ newborn screening v1.114 NOTCH1 Tommy Li Added phenotypes Aortic valve disease for gene: NOTCH1
BabyScreen+ newborn screening v1.114 NOP10 Tommy Li Added phenotypes Dyskeratosis congenita for gene: NOP10
BabyScreen+ newborn screening v1.114 NOG Tommy Li Added phenotypes Multiple synostoses syndrome 1 (MIM#186500); Symphalangism, proximal, 1A (MIM#185800); Brachydactyly, type B2 - MIM#611377; Tarsal-carpal coalition syndrome (MIM#186570); Stapes ankylosis with broad thumbs and toes (MIM#184460) for gene: NOG
BabyScreen+ newborn screening v1.114 NME8 Tommy Li Added phenotypes Ciliary dyskinesia, primary for gene: NME8
BabyScreen+ newborn screening v1.114 NLRP7 Tommy Li Added phenotypes Hydatidiform mole for gene: NLRP7
BabyScreen+ newborn screening v1.114 NLGN4X Tommy Li Added phenotypes Intellectual developmental disorder, X-linked MIM#300495 for gene: NLGN4X
BabyScreen+ newborn screening v1.114 NLGN3 Tommy Li Added phenotypes Autism for gene: NLGN3
BabyScreen+ newborn screening v1.114 NKX3-2 Tommy Li Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia for gene: NKX3-2
BabyScreen+ newborn screening v1.114 NIPBL Tommy Li Added phenotypes Cornelia de Lange syndrome 1, MIM# 122470 for gene: NIPBL
BabyScreen+ newborn screening v1.114 NIN Tommy Li Added phenotypes Seckel syndrome for gene: NIN
BabyScreen+ newborn screening v1.114 NHP2 Tommy Li Added phenotypes Dyskeratosis congenita for gene: NHP2
BabyScreen+ newborn screening v1.114 NHLRC1 Tommy Li Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 for gene: NHLRC1
BabyScreen+ newborn screening v1.114 NGLY1 Tommy Li Added phenotypes Congenital disorder of deglycosylation, MIM# 615273 for gene: NGLY1
BabyScreen+ newborn screening v1.114 NFATC1 Tommy Li Added phenotypes Congenital heart disease for gene: NFATC1
BabyScreen+ newborn screening v1.114 NF2 Tommy Li Added phenotypes Neurofibromatosis, type 2 (MIM# 101000) for gene: NF2
BabyScreen+ newborn screening v1.114 NF1 Tommy Li Added phenotypes Neurofibromatosis, type 1, MIM# 162200 for gene: NF1
BabyScreen+ newborn screening v1.114 NEXN Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: NEXN
BabyScreen+ newborn screening v1.114 NEU1 Tommy Li Added phenotypes Sialidosis, type I and type II, MIM# 256550 for gene: NEU1
BabyScreen+ newborn screening v1.114 NEK8 Tommy Li Added phenotypes MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 for gene: NEK8
Publications for gene NEK8 were updated from 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306 to 26862157; 26967905; 26697755; 33131162; 23274954; 23418306; 31633649
BabyScreen+ newborn screening v1.114 NEK1 Tommy Li Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 for gene: NEK1
Publications for gene NEK1 were updated from 22499340; 21211617; 28123176; 25492405 to 22499340; 21211617; 25492405; 28123176
BabyScreen+ newborn screening v1.114 NEFL Tommy Li Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 2E 607684; Charcot-Marie-Tooth disease, type 1F, MIM# 607734 for gene: NEFL
BabyScreen+ newborn screening v1.114 NEDD4L Tommy Li Added phenotypes Epilepsy, photosensitive generalised for gene: NEDD4L
BabyScreen+ newborn screening v1.114 NECTIN1 Tommy Li Added phenotypes Cleft lip / palate for gene: NECTIN1
BabyScreen+ newborn screening v1.114 NEBL Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: NEBL
BabyScreen+ newborn screening v1.114 NEB Tommy Li Added phenotypes Arthrogryposis multiplex congenita 6, MIM# 619334; Nemaline myopathy 2, autosomal recessive 256030 for gene: NEB
BabyScreen+ newborn screening v1.114 NDP Tommy Li Added phenotypes Norrie disease, MIM# 310600 for gene: NDP
BabyScreen+ newborn screening v1.114 NBN Tommy Li Added phenotypes Nijmegen breakage syndrome, MIM#251260 for gene: NBN
BabyScreen+ newborn screening v1.114 NAXE Tommy Li Added phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 for gene: NAXE
Publications for gene NAXE were updated from 27122014; 27616477; 31758406 to 27616477; 27122014; 31758406
BabyScreen+ newborn screening v1.114 NAGA Tommy Li Added phenotypes Kanzaki disease, MIM# 609242 for gene: NAGA
BabyScreen+ newborn screening v1.114 NAA15 Tommy Li Added phenotypes Congenital heart disease for gene: NAA15
BabyScreen+ newborn screening v1.114 NAA10 Tommy Li Added phenotypes N-terminal acetyltransferase deficiency for gene: NAA10
BabyScreen+ newborn screening v1.114 MYPN Tommy Li Added phenotypes Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated for gene: MYPN
BabyScreen+ newborn screening v1.114 MYOZ2 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: MYOZ2
BabyScreen+ newborn screening v1.114 MYOT Tommy Li Added phenotypes Myofibrillar myopathy for gene: MYOT
BabyScreen+ newborn screening v1.114 MYOM1 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: MYOM1
BabyScreen+ newborn screening v1.114 MYO9A Tommy Li Added phenotypes Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 for gene: MYO9A
BabyScreen+ newborn screening v1.114 MYO5A Tommy Li Added phenotypes Griscelli syndrome for gene: MYO5A
BabyScreen+ newborn screening v1.114 MYO1F Tommy Li Added phenotypes Sensorineural hearing loss for gene: MYO1F
BabyScreen+ newborn screening v1.114 MYO1E Tommy Li Added phenotypes Focal segmental glomerulosclerosis for gene: MYO1E
BabyScreen+ newborn screening v1.114 MYO1C Tommy Li Added phenotypes Sensorineural hearing loss for gene: MYO1C
BabyScreen+ newborn screening v1.114 MYLK2 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: MYLK2
BabyScreen+ newborn screening v1.114 MYH9 Tommy Li Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Deafness, autosomal dominant 17, MIM# 603622 for gene: MYH9
BabyScreen+ newborn screening v1.114 MYH6 Tommy Li Added phenotypes Atrial septal defect; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: MYH6
BabyScreen+ newborn screening v1.114 MYH3 Tommy Li Added phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436 for gene: MYH3
BabyScreen+ newborn screening v1.114 MYH2 Tommy Li Added phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637 for gene: MYH2
BabyScreen+ newborn screening v1.114 MYH14 Tommy Li Added phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A, MIM# 600652 for gene: MYH14
BabyScreen+ newborn screening v1.114 MYCN Tommy Li Added phenotypes Feingold syndrome 1, MIM# 164280 for gene: MYCN
BabyScreen+ newborn screening v1.114 MYBPC3 Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: MYBPC3
BabyScreen+ newborn screening v1.114 MYBPC1 Tommy Li Added phenotypes Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335 for gene: MYBPC1
Publications for gene MYBPC1 were updated from 23873045; 20045868; 22610851; 26661508; 31025394; 31264822 to 20045868; 23873045; 31025394; 31264822; 26661508; 22610851
BabyScreen+ newborn screening v1.114 MUTYH Tommy Li Added phenotypes Adenomas, multiple colorectal, MIM# 608456 for gene: MUTYH
BabyScreen+ newborn screening v1.114 MUC5B Tommy Li Added phenotypes Pulmonary fibrosis, idiopathic for gene: MUC5B
BabyScreen+ newborn screening v1.114 MTO1 Tommy Li Added phenotypes Hypertrophic cardiomyopathy & lactic acidosis for gene: MTO1
BabyScreen+ newborn screening v1.114 MT-ND6 Tommy Li Added phenotypes Leber hereditary optic neuropathy for gene: MT-ND6
BabyScreen+ newborn screening v1.114 MT-ND4 Tommy Li Added phenotypes Leber hereditary optic neuropathy for gene: MT-ND4
BabyScreen+ newborn screening v1.114 MT-ND1 Tommy Li Added phenotypes Leber hereditary optic neuropathy for gene: MT-ND1
BabyScreen+ newborn screening v1.114 MTM1 Tommy Li Added phenotypes Myopathy, centronuclear, X-linked, MIM# 310400 for gene: MTM1
BabyScreen+ newborn screening v1.114 MTHFS Tommy Li Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 for gene: MTHFS
BabyScreen+ newborn screening v1.114 MTHFR Tommy Li Added phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 for gene: MTHFR
BabyScreen+ newborn screening v1.114 MSX2 Tommy Li Added phenotypes Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550) for gene: MSX2
BabyScreen+ newborn screening v1.114 MSRB3 Tommy Li Added phenotypes Deafness, autosomal recessive for gene: MSRB3
BabyScreen+ newborn screening v1.114 MRPS22 Tommy Li Added phenotypes Mitochondrial respiratory chain disorder for gene: MRPS22
BabyScreen+ newborn screening v1.114 MRPS16 Tommy Li Added phenotypes Mitochondrial respiratory chain disorder for gene: MRPS16
BabyScreen+ newborn screening v1.114 MPZL2 Tommy Li Added phenotypes Deafness, autosomal recessive 111 MIM#618145 for gene: MPZL2
BabyScreen+ newborn screening v1.114 MPZ Tommy Li Added phenotypes Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, type 1B, 118200; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, dominant intermediate D, 60779 for gene: MPZ
BabyScreen+ newborn screening v1.114 MPV17 Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 for gene: MPV17
BabyScreen+ newborn screening v1.114 MPDU1 Tommy Li Added phenotypes MPDU1-CDG, MONDO:0012211; Congenital disorder of glycosylation, type If, MIM# 609180 for gene: MPDU1
Publications for gene MPDU1 were updated from 11733564; 11733556; 31741824; 29721919 to 11733556; 31741824; 11733564; 29721919
BabyScreen+ newborn screening v1.114 MOGS Tommy Li Added phenotypes Glucosidase 1 deficiency for gene: MOGS
BabyScreen+ newborn screening v1.114 MOCS2 Tommy Li Added phenotypes Molybdenum cofactor deficiency B, MIM#252160 for gene: MOCS2
BabyScreen+ newborn screening v1.114 MLPH Tommy Li Added phenotypes Griscelli syndrome type 3 for gene: MLPH
BabyScreen+ newborn screening v1.114 MLC1 Tommy Li Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 for gene: MLC1
BabyScreen+ newborn screening v1.114 MKS1 Tommy Li Added phenotypes Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441; Joubert syndrome 28, MIM# 617121 MONDO:0014928 for gene: MKS1
BabyScreen+ newborn screening v1.114 MKKS Tommy Li Added phenotypes Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700 for gene: MKKS
BabyScreen+ newborn screening v1.114 MIR96 Tommy Li Added phenotypes Hearing loss for gene: MIR96
BabyScreen+ newborn screening v1.114 MIB1 Tommy Li Added phenotypes Left ventricular noncompaction for gene: MIB1
BabyScreen+ newborn screening v1.114 MGP Tommy Li Added phenotypes Keutel syndrome, MIM #245150 for gene: MGP
BabyScreen+ newborn screening v1.114 MGAT2 Tommy Li Added phenotypes MGAT2-CDG, MONDO:0008908; Congenital disorder of glycosylation, type IIa, MIM# 212066 for gene: MGAT2
Publications for gene MGAT2 were updated from 22105986; 31420886; 11228641; 33044030; 8808595 to 31420886; 11228641; 22105986; 8808595; 33044030
BabyScreen+ newborn screening v1.114 MFSD8 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 for gene: MFSD8
BabyScreen+ newborn screening v1.114 MFN2 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Hereditary motor and sensory neuropathy VIA, OMIM #601152; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087 for gene: MFN2
BabyScreen+ newborn screening v1.114 MESP2 Tommy Li Added phenotypes Spondylocostal dysostosis, autosomal recessive 2 for gene: MESP2
BabyScreen+ newborn screening v1.114 MEGF10 Tommy Li Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399 for gene: MEGF10
BabyScreen+ newborn screening v1.114 MED25 Tommy Li Added phenotypes Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 for gene: MED25
BabyScreen+ newborn screening v1.114 MED20 Tommy Li Added phenotypes Congenital heart disease for gene: MED20
BabyScreen+ newborn screening v1.114 MED13L Tommy Li Added phenotypes Transposition of great arteries for gene: MED13L
BabyScreen+ newborn screening v1.114 MED12 Tommy Li Added phenotypes Opitz-Kaveggia syndrome MIM#305450; Lujan-Fryns syndrome MIM#309520; Hardikar syndrome, MIM# 301068; Ohdo syndrome, X-linked MIM#300895 for gene: MED12
BabyScreen+ newborn screening v1.114 MECP2 Tommy Li Added phenotypes MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 for gene: MECP2
BabyScreen+ newborn screening v1.114 MCPH1 Tommy Li Added phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 for gene: MCPH1
BabyScreen+ newborn screening v1.114 MCOLN1 Tommy Li Added phenotypes Mucolipidosis IV, MIM# 252650 for gene: MCOLN1
BabyScreen+ newborn screening v1.114 MCCC2 Tommy Li Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 for gene: MCCC2
BabyScreen+ newborn screening v1.114 MCCC1 Tommy Li Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 for gene: MCCC1
BabyScreen+ newborn screening v1.114 MBTPS2 Tommy Li Added phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 for gene: MBTPS2
BabyScreen+ newborn screening v1.114 MATN4 Tommy Li Added phenotypes Multiple anomalies for gene: MATN4
BabyScreen+ newborn screening v1.114 MAT1A Tommy Li Added phenotypes Methionine adenosyltransferase deficiency MIM#250850 for gene: MAT1A
BabyScreen+ newborn screening v1.114 MAPT Tommy Li Added phenotypes Dementia, frontotemporal, with or without parkinsonism for gene: MAPT
BabyScreen+ newborn screening v1.114 MAPK10 Tommy Li Added phenotypes Epileptic encephalopathy for gene: MAPK10
BabyScreen+ newborn screening v1.114 MAP2K2 Tommy Li Added phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 for gene: MAP2K2
BabyScreen+ newborn screening v1.114 MAP2K1 Tommy Li Added phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 for gene: MAP2K1
BabyScreen+ newborn screening v1.114 MAGI2 Tommy Li Added phenotypes Nephrotic syndrome, type 15, MIM# 617609 for gene: MAGI2
BabyScreen+ newborn screening v1.114 MAD2L2 Tommy Li Added phenotypes Fanconi anemia, complementation group V, MIM# 617243 for gene: MAD2L2
BabyScreen+ newborn screening v1.114 LYZ Tommy Li Added phenotypes Amyloidosis, systemic for gene: LYZ
BabyScreen+ newborn screening v1.114 LUM Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: LUM
BabyScreen+ newborn screening v1.114 LTBP4 Tommy Li Added phenotypes Cutis laxa, autosomal recessive, type IC (MIM# 613177) for gene: LTBP4
BabyScreen+ newborn screening v1.114 LRSAM1 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 for gene: LRSAM1
BabyScreen+ newborn screening v1.114 LRRK2 Tommy Li Added phenotypes Parkinson disease for gene: LRRK2
BabyScreen+ newborn screening v1.114 LRRC6 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 for gene: LRRC6
BabyScreen+ newborn screening v1.114 LRPPRC Tommy Li Added phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 for gene: LRPPRC
BabyScreen+ newborn screening v1.114 LRP4 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 17 , MIM#616304 for gene: LRP4
BabyScreen+ newborn screening v1.114 LRP2 Tommy Li Added phenotypes Donnai-Barrow syndrome, MIM#222448 for gene: LRP2
BabyScreen+ newborn screening v1.114 LPP Tommy Li Added phenotypes Tetralogy of Fallot for gene: LPP
BabyScreen+ newborn screening v1.114 LPIN2 Tommy Li Added phenotypes Majeed syndrome for gene: LPIN2
BabyScreen+ newborn screening v1.114 LMX1B Tommy Li Added phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061 for gene: LMX1B
BabyScreen+ newborn screening v1.114 LMX1A Tommy Li Added phenotypes Deafness, autosomal dominant 7 MIM#601412 for gene: LMX1A
BabyScreen+ newborn screening v1.114 LMOD3 Tommy Li Added phenotypes Nemaline myopathy 10, MIM# 616165 for gene: LMOD3
BabyScreen+ newborn screening v1.114 LMNB2 Tommy Li Added phenotypes Lipodystrophy, partial for gene: LMNB2
BabyScreen+ newborn screening v1.114 LITAF Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 1C, MIM# 601098 for gene: LITAF
BabyScreen+ newborn screening v1.114 LIFR Tommy Li Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 for gene: LIFR
BabyScreen+ newborn screening v1.114 LIAS Tommy Li Added phenotypes Hyperglycinemia, lactic acidosis, and seizures MIM#614462 for gene: LIAS
Publications for gene LIAS were updated from 24334290; 24777537 to 24777537; 24334290
BabyScreen+ newborn screening v1.114 LHB Tommy Li Added phenotypes Hypogonadism for gene: LHB
BabyScreen+ newborn screening v1.114 LGI1 Tommy Li Added phenotypes Epilepsy, familial temporal lobe, 1 for gene: LGI1
BabyScreen+ newborn screening v1.114 LDB3 Tommy Li Added phenotypes Myofibrillar myopathy for gene: LDB3
BabyScreen+ newborn screening v1.114 LBR Tommy Li Added phenotypes Pelger-Huet anomaly; Reynolds syndrome for gene: LBR
BabyScreen+ newborn screening v1.114 LARS2 Tommy Li Added phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300 for gene: LARS2
BabyScreen+ newborn screening v1.114 LARS Tommy Li Added phenotypes Infantile liver failure syndrome for gene: LARS
BabyScreen+ newborn screening v1.114 LARGE1 Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 for gene: LARGE1
BabyScreen+ newborn screening v1.114 LAMTOR2 Tommy Li Added phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 for gene: LAMTOR2
BabyScreen+ newborn screening v1.114 LAMC2 Tommy Li Added phenotypes Epidermolysis bullosa, junctional 3B, severe, MIM# 619786 for gene: LAMC2
BabyScreen+ newborn screening v1.114 LAMB3 Tommy Li Added phenotypes Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 for gene: LAMB3
BabyScreen+ newborn screening v1.114 LAMB2 Tommy Li Added phenotypes Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 for gene: LAMB2
BabyScreen+ newborn screening v1.114 LAMA4 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: LAMA4
BabyScreen+ newborn screening v1.114 LAMA3 Tommy Li Added phenotypes Epidermolysis bullosa, junctional 2B, severe, MIM# 619784 for gene: LAMA3
BabyScreen+ newborn screening v1.114 L1CAM Tommy Li Added phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 for gene: L1CAM
BabyScreen+ newborn screening v1.114 KRT8 Tommy Li Added phenotypes Cirrhosis, cryptogenic for gene: KRT8
BabyScreen+ newborn screening v1.114 KRT6B Tommy Li Added phenotypes Pachyonychia congenita for gene: KRT6B
BabyScreen+ newborn screening v1.114 KRT6A Tommy Li Added phenotypes Pachyonychia congenita 3 (MIM#615726) for gene: KRT6A
BabyScreen+ newborn screening v1.114 KRT5 Tommy Li Added phenotypes Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex-MCR, MIM# 609352 for gene: KRT5
BabyScreen+ newborn screening v1.114 KRT18 Tommy Li Added phenotypes Cirrhosis, cryptogenic for gene: KRT18
BabyScreen+ newborn screening v1.114 KRT17 Tommy Li Added phenotypes Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500 for gene: KRT17
BabyScreen+ newborn screening v1.114 KRT16 Tommy Li Added phenotypes Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200) for gene: KRT16
BabyScreen+ newborn screening v1.114 KRT14 Tommy Li Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Koebner type, 131900; Dermatopathia pigmentosa reticularis, 125595 for gene: KRT14
BabyScreen+ newborn screening v1.114 KRAS Tommy Li Added phenotypes Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278 for gene: KRAS
BabyScreen+ newborn screening v1.114 KPTN Tommy Li Added phenotypes Macrocephaly, neurodevelopmental delay, and seizures for gene: KPTN
BabyScreen+ newborn screening v1.114 KMT2D Tommy Li Added phenotypes Kabuki syndrome 1, MIM# 147920 for gene: KMT2D
BabyScreen+ newborn screening v1.114 KLHL41 Tommy Li Added phenotypes Nemaline myopathy 9, MIM# 615731 for gene: KLHL41
BabyScreen+ newborn screening v1.114 KLHL40 Tommy Li Added phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 for gene: KLHL40
BabyScreen+ newborn screening v1.114 KLF1 Tommy Li Added phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 for gene: KLF1
Publications for gene KLF1 were updated from 33339573; 32815883; 32032242; 21055716; 32221653; 31818881 to 33339573; 31818881; 21055716; 32032242; 32221653; 32815883
BabyScreen+ newborn screening v1.114 KIT Tommy Li Added phenotypes Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764 for gene: KIT
BabyScreen+ newborn screening v1.114 KIF22 Tommy Li Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 for gene: KIF22
BabyScreen+ newborn screening v1.114 KIF21A Tommy Li Added phenotypes Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 for gene: KIF21A
BabyScreen+ newborn screening v1.114 KIF1BP Tommy Li Added phenotypes Goldberg-Shprintzen megacolon syndrome for gene: KIF1BP
BabyScreen+ newborn screening v1.114 KIF1B Tommy Li Added phenotypes Charcot-Marie-Tooth disease for gene: KIF1B
BabyScreen+ newborn screening v1.114 KDM6A Tommy Li Added phenotypes Kabuki syndrome 2, MIM#300867 for gene: KDM6A
BabyScreen+ newborn screening v1.114 KDM5B Tommy Li Added phenotypes Congenital heart disease for gene: KDM5B
BabyScreen+ newborn screening v1.114 KCTD7 Tommy Li Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) for gene: KCTD7
BabyScreen+ newborn screening v1.114 KCNT1 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 14, MIM# 614959 for gene: KCNT1
BabyScreen+ newborn screening v1.114 KCNQ4 Tommy Li Added phenotypes Deafness, autosomal dominant 2A, MIM# 600101 for gene: KCNQ4
BabyScreen+ newborn screening v1.114 KCNQ3 Tommy Li Added phenotypes Epilepsy, benign neonatal for gene: KCNQ3
BabyScreen+ newborn screening v1.114 KCNQ2 Tommy Li Added phenotypes Seizures, benign neonatal, 1, MIM# 121200; Epilepsy, benign neonatal; Developmental and epileptic encephalopathy 7, MIM# 613720 for gene: KCNQ2
BabyScreen+ newborn screening v1.114 KCNQ1OT1 Tommy Li Added phenotypes Beckwith-Wiedemann syndrome for gene: KCNQ1OT1
BabyScreen+ newborn screening v1.114 KCNJ8 Tommy Li Added phenotypes Sudden infant death syndrom for gene: KCNJ8
BabyScreen+ newborn screening v1.114 KCNJ5 Tommy Li Added phenotypes Long QT syndrome for gene: KCNJ5
BabyScreen+ newborn screening v1.114 KCNJ18 Tommy Li Added phenotypes Hypokalaemic periodic paralysis for gene: KCNJ18
BabyScreen+ newborn screening v1.114 KCNE5 Tommy Li Added phenotypes Atrial fibrillation for gene: KCNE5
BabyScreen+ newborn screening v1.114 KCNE3 Tommy Li Added phenotypes Brugada syndrome for gene: KCNE3
BabyScreen+ newborn screening v1.114 KCND3 Tommy Li Added phenotypes Brugada syndrome for gene: KCND3
BabyScreen+ newborn screening v1.114 KCNA5 Tommy Li Added phenotypes Atrial fibrillation, familial, 7, MIM# 612240 for gene: KCNA5
BabyScreen+ newborn screening v1.114 KCNA1 Tommy Li Added phenotypes Episodic ataxia/myokymia syndrome, MIM# 160120 for gene: KCNA1
BabyScreen+ newborn screening v1.114 KBTBD13 Tommy Li Added phenotypes Nemaline myopathy 6, autosomal dominant, MIM# 609273; Hereditary motor neuropathy late-onset; limb girdle muscular dystrophy for gene: KBTBD13
BabyScreen+ newborn screening v1.114 KAT6B Tommy Li Added phenotypes SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170 for gene: KAT6B
BabyScreen+ newborn screening v1.114 KARS Tommy Li Added phenotypes Deafness, autosomal recessive 89, MIM# 613916; Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 for gene: KARS
Publications for gene KARS were updated from 30737337; 30715177; 31116475 to 30737337; 31116475; 30715177
BabyScreen+ newborn screening v1.114 KANSL1 Tommy Li Added phenotypes Koolen-De Vries syndrome, MIM# 610443 for gene: KANSL1
BabyScreen+ newborn screening v1.114 JPH2 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: JPH2
BabyScreen+ newborn screening v1.114 JAG1 Tommy Li Added phenotypes Alagille syndrome, MIM# 1 118450 for gene: JAG1
BabyScreen+ newborn screening v1.114 ITGB4 Tommy Li Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 for gene: ITGB4
BabyScreen+ newborn screening v1.114 ITGA7 Tommy Li Added phenotypes Congenital muscular dystrophy with integrin deficiency for gene: ITGA7
BabyScreen+ newborn screening v1.114 ITGA6 Tommy Li Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis for gene: ITGA6
BabyScreen+ newborn screening v1.114 ITGA3 Tommy Li Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital for gene: ITGA3
BabyScreen+ newborn screening v1.114 ISPD Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 for gene: ISPD
BabyScreen+ newborn screening v1.114 ISL1 Tommy Li Added phenotypes Diabetes, type 2 for gene: ISL1
BabyScreen+ newborn screening v1.114 ISCU Tommy Li Added phenotypes Myopathy with defiency of succinate dehydrogenase for gene: ISCU
BabyScreen+ newborn screening v1.114 IRS1 Tommy Li Added phenotypes Diabetes mellitus, noninsulin dependent for gene: IRS1
BabyScreen+ newborn screening v1.114 IRF6 Tommy Li Added phenotypes van der Woude syndrome MIM#119300; Popliteal pterygium syndrome 1MIM#119500 for gene: IRF6
BabyScreen+ newborn screening v1.114 IQCB1 Tommy Li Added phenotypes Senior-Loken syndrome 5, MIM# 609254 for gene: IQCB1
BabyScreen+ newborn screening v1.114 INVS Tommy Li Added phenotypes Nephronophthisis 2, infantile, (MIM#602088) for gene: INVS
BabyScreen+ newborn screening v1.114 INSR Tommy Li Added phenotypes Leprechaunism, MIM# 246200; Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Rabson-Mendenhall syndrome, MIM# 262190 for gene: INSR
BabyScreen+ newborn screening v1.114 ILK Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: ILK
BabyScreen+ newborn screening v1.114 IGHMBP2 Tommy Li Added phenotypes Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 for gene: IGHMBP2
BabyScreen+ newborn screening v1.114 IGBP1 Tommy Li Added phenotypes Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia for gene: IGBP1
BabyScreen+ newborn screening v1.114 IFT80 Tommy Li Added phenotypes Asphyxiating thoracic dystrophy 2 for gene: IFT80
BabyScreen+ newborn screening v1.114 IFT43 Tommy Li Added phenotypes Cranioectodermal dysplasia for gene: IFT43
BabyScreen+ newborn screening v1.114 IFT122 Tommy Li Added phenotypes Cranioectodermal dysplasia for gene: IFT122
BabyScreen+ newborn screening v1.114 HYLS1 Tommy Li Added phenotypes Hydrolethalus syndrome for gene: HYLS1
BabyScreen+ newborn screening v1.114 HYDIN Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: HYDIN
BabyScreen+ newborn screening v1.114 HTRA1 Tommy Li Added phenotypes CARASIL syndrome, MIM# 600142 for gene: HTRA1
BabyScreen+ newborn screening v1.114 HSPG2 Tommy Li Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; MONDO:0009140 for gene: HSPG2
BabyScreen+ newborn screening v1.114 HSPB8 Tommy Li Added phenotypes Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 for gene: HSPB8
BabyScreen+ newborn screening v1.114 HSD17B4 Tommy Li Added phenotypes Perrault syndrome 1, AR (MIM#233400); D-bifunctional protein deficiency, AR (MIM#261515) for gene: HSD17B4
BabyScreen+ newborn screening v1.114 HSD17B3 Tommy Li Added phenotypes Pseudohermaphroditism, male, with gynecomastia MIM#264300 for gene: HSD17B3
BabyScreen+ newborn screening v1.114 HSD17B10 Tommy Li Added phenotypes HSD10 mitochondrial disease, MIM# 300438 for gene: HSD17B10
BabyScreen+ newborn screening v1.114 HRAS Tommy Li Added phenotypes Costello syndrome, MIM# 218040 for gene: HRAS
BabyScreen+ newborn screening v1.114 HPS6 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 6 for gene: HPS6
BabyScreen+ newborn screening v1.114 HPS5 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 5 (MIM#614074) for gene: HPS5
BabyScreen+ newborn screening v1.114 HPS4 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 for gene: HPS4
BabyScreen+ newborn screening v1.114 HPS3 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 3, MIM# 614072 for gene: HPS3
BabyScreen+ newborn screening v1.114 HPS1 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 for gene: HPS1
BabyScreen+ newborn screening v1.114 HPRT1 Tommy Li Added phenotypes Lesch-Nyhan syndrome, MIM# 300322 for gene: HPRT1
BabyScreen+ newborn screening v1.114 HPD Tommy Li Added phenotypes Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710; Tyrosinemia, type III for gene: HPD
Publications for gene HPD were updated from 9343288; 32520295; 11916315 to 32520295; 9343288; 11916315
BabyScreen+ newborn screening v1.114 HOXA1 Tommy Li Added phenotypes Athabaskan brainstem dysgenesis syndrome for gene: HOXA1
BabyScreen+ newborn screening v1.114 HOMEZ Tommy Li Added phenotypes Congenital heart disease for gene: HOMEZ
BabyScreen+ newborn screening v1.114 HOMER2 Tommy Li Added phenotypes Deafness, autosomal dominant 68, MIM# 616707 for gene: HOMER2
BabyScreen+ newborn screening v1.114 HNF1B Tommy Li Added phenotypes Renal cysts and diabetes syndrome for gene: HNF1B
BabyScreen+ newborn screening v1.114 HMBS Tommy Li Added phenotypes Porphyria, acute intermittent for gene: HMBS
BabyScreen+ newborn screening v1.114 HINT1 Tommy Li Added phenotypes Gamstorp-Wohlfart syndrome, MONDO:0007646; Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 for gene: HINT1
BabyScreen+ newborn screening v1.114 HGSNAT Tommy Li Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 for gene: HGSNAT
BabyScreen+ newborn screening v1.114 HFE2 Tommy Li Added phenotypes Haemochromatosis for gene: HFE2
BabyScreen+ newborn screening v1.114 HFE Tommy Li Added phenotypes Hemochromatosis for gene: HFE
BabyScreen+ newborn screening v1.114 HEXB Tommy Li Added phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 for gene: HEXB
BabyScreen+ newborn screening v1.114 HEXA Tommy Li Added phenotypes GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
BabyScreen+ newborn screening v1.114 HERC2 Tommy Li Added phenotypes Autism spectrum disorder for gene: HERC2
BabyScreen+ newborn screening v1.114 HDAC8 Tommy Li Added phenotypes Cornelia de Lange syndrome 5, MIM# 300882 for gene: HDAC8
BabyScreen+ newborn screening v1.114 HCN4 Tommy Li Added phenotypes Brugada syndrome for gene: HCN4
BabyScreen+ newborn screening v1.114 HCFC1 Tommy Li Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541 for gene: HCFC1
Publications for gene HCFC1 were updated from 20301503; 26893841; 35337626 to 35337626; 20301503; 26893841
BabyScreen+ newborn screening v1.114 HCCS Tommy Li Added phenotypes Microphthalmia for gene: HCCS
BabyScreen+ newborn screening v1.114 HAS2 Tommy Li Added phenotypes Congenital heart disease for gene: HAS2
BabyScreen+ newborn screening v1.114 HARS2 Tommy Li Added phenotypes Perrault syndrome 2, MIM# 614926 for gene: HARS2
BabyScreen+ newborn screening v1.114 HARS Tommy Li Added phenotypes Usher syndrome type 3B for gene: HARS
BabyScreen+ newborn screening v1.114 HAMP Tommy Li Added phenotypes Haemochromatosis for gene: HAMP
BabyScreen+ newborn screening v1.114 H19 Tommy Li Added phenotypes Beckwith-Wiedemann Syndrome for gene: H19
BabyScreen+ newborn screening v1.114 GYG1 Tommy Li Added phenotypes Glycogen storage disease XV for gene: GYG1
BabyScreen+ newborn screening v1.114 GUCY2C Tommy Li Added phenotypes Meconium ileus for gene: GUCY2C
BabyScreen+ newborn screening v1.114 GTF2H5 Tommy Li Added phenotypes Trichothiodystrophy for gene: GTF2H5
BabyScreen+ newborn screening v1.114 GSS Tommy Li Added phenotypes Glutathione synthetase deficiency, MIM# 266130; Haemolytic anemia due to glutathione synthetase deficiency 231900 for gene: GSS
BabyScreen+ newborn screening v1.114 GRIN2A Tommy Li Added phenotypes Epilepsy with neurodevelopmental defects for gene: GRIN2A
BabyScreen+ newborn screening v1.114 GRHL2 Tommy Li Added phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641 for gene: GRHL2
BabyScreen+ newborn screening v1.114 GPX1 Tommy Li Added phenotypes Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1
BabyScreen+ newborn screening v1.114 GPSM2 Tommy Li Added phenotypes Chudley-McCullough syndrome MIM#604213 for gene: GPSM2
BabyScreen+ newborn screening v1.114 GPR161 Tommy Li Added phenotypes Medulloblastoma predisposition syndrome MIM#155255 for gene: GPR161
BabyScreen+ newborn screening v1.114 GPR143 Tommy Li Added phenotypes Ocular albinism, type I, Nettleship-Falls type, MIM# 300500 for gene: GPR143
BabyScreen+ newborn screening v1.114 GPHN Tommy Li Added phenotypes Hyperekplexia for gene: GPHN
BabyScreen+ newborn screening v1.114 GPC6 Tommy Li Added phenotypes Omodysplasia for gene: GPC6
BabyScreen+ newborn screening v1.114 GPC4 Tommy Li Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC4
BabyScreen+ newborn screening v1.114 GPC3 Tommy Li Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 for gene: GPC3
BabyScreen+ newborn screening v1.114 GNS Tommy Li Added phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 for gene: GNS
BabyScreen+ newborn screening v1.114 GNPTG Tommy Li Added phenotypes Mucolipidosis III gamma, MIM# 252605 for gene: GNPTG
BabyScreen+ newborn screening v1.114 GNPTAB Tommy Li Added phenotypes Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931 for gene: GNPTAB
BabyScreen+ newborn screening v1.114 GMPPA Tommy Li Added phenotypes Congenital disorder of glycosylation for gene: GMPPA
BabyScreen+ newborn screening v1.114 GLUL Tommy Li Added phenotypes Congenital brain dysgenesis due to glutamine synthetase deficiency for gene: GLUL
BabyScreen+ newborn screening v1.114 GLRB Tommy Li Added phenotypes Hyperekplexia 2, MIM# 614619; Hyperekplexia 2, autosomal recessive for gene: GLRB
BabyScreen+ newborn screening v1.114 GLI3 Tommy Li Added phenotypes Greig cephalopolysyndactyly syndrome MIM#175700; Pallister-Hall syndrome MIM#146510; Polydactyly, postaxial, types A1 and B, MIM#174200; Polydactyly, preaxial, type IV MIM#174700 for gene: GLI3
BabyScreen+ newborn screening v1.114 GLI2 Tommy Li Added phenotypes Holoprosencephaly-9 for gene: GLI2
BabyScreen+ newborn screening v1.114 GLE1 Tommy Li Added phenotypes Lethal arthrogryposis with anterior horn cell disease for gene: GLE1
BabyScreen+ newborn screening v1.114 GLB1 Tommy Li Added phenotypes GM1-gangliosidosis, type I MIM#230500; Mucopolysaccharidosis type IVB (Morquio) MIM#253010; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650 for gene: GLB1
BabyScreen+ newborn screening v1.114 GJC2 Tommy Li Added phenotypes Lymphatic malformation 3 MIM#613480; Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804 for gene: GJC2
BabyScreen+ newborn screening v1.114 GJB1 Tommy Li Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 for gene: GJB1
BabyScreen+ newborn screening v1.114 GJA1 Tommy Li Added phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200 for gene: GJA1
BabyScreen+ newborn screening v1.114 GFPT1 Tommy Li Added phenotypes Congenital myasthenic syndrome, limb-girdle, MIM#610542 for gene: GFPT1
BabyScreen+ newborn screening v1.114 GFM1 Tommy Li Added phenotypes Combined oxidative phosphorylation deficiency 1, MIM#609060 for gene: GFM1
BabyScreen+ newborn screening v1.114 GFER Tommy Li Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay for gene: GFER
BabyScreen+ newborn screening v1.114 GDNF Tommy Li Added phenotypes Hirschsprung disease; Central hypoventilation syndrome for gene: GDNF
BabyScreen+ newborn screening v1.114 GDF1 Tommy Li Added phenotypes Congenital heart defects for gene: GDF1
BabyScreen+ newborn screening v1.114 GDAP1 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706; Charcot-Marie-Tooth disease, type 4A, MIM#214400; Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831 for gene: GDAP1
BabyScreen+ newborn screening v1.114 GCSH Tommy Li Added phenotypes Glycine encephalopathy for gene: GCSH
BabyScreen+ newborn screening v1.114 GCLC Tommy Li Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC
BabyScreen+ newborn screening v1.114 GBE1 Tommy Li Added phenotypes Polyglucosan body disease, adult form; Glycogen storage disease IV for gene: GBE1
BabyScreen+ newborn screening v1.114 GATAD1 Tommy Li Added phenotypes Cardiomyopathy, dilated, 2B for gene: GATAD1
BabyScreen+ newborn screening v1.114 GATA6 Tommy Li Added phenotypes Atrial fibrillation for gene: GATA6
BabyScreen+ newborn screening v1.114 GATA5 Tommy Li Added phenotypes Familial atrial fibrillation for gene: GATA5
BabyScreen+ newborn screening v1.114 GATA1 Tommy Li Added phenotypes Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Porphyria, congenital erythropoietic; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Dyserythropoietic anemia with thrombocytopenia for gene: GATA1
BabyScreen+ newborn screening v1.114 GAN Tommy Li Added phenotypes Giant axonal neuropathy-1, MIM#256850 for gene: GAN
BabyScreen+ newborn screening v1.114 GABRG2 Tommy Li Added phenotypes Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681 for gene: GABRG2
BabyScreen+ newborn screening v1.114 GABRA1 Tommy Li Added phenotypes Epilepsy, idiopathic generalised for gene: GABRA1
BabyScreen+ newborn screening v1.114 FXN Tommy Li Added phenotypes Friedreich ataxia MONDO:0100339 for gene: FXN
BabyScreen+ newborn screening v1.114 FTL Tommy Li Added phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 for gene: FTL
BabyScreen+ newborn screening v1.114 FTCD Tommy Li Added phenotypes Glutamate formiminotransferase deficiency for gene: FTCD
BabyScreen+ newborn screening v1.114 FSCN2 Tommy Li Added phenotypes Retinitis pigmentosa for gene: FSCN2
BabyScreen+ newborn screening v1.114 FREM2 Tommy Li Added phenotypes Fraser syndrome for gene: FREM2
BabyScreen+ newborn screening v1.114 FREM1 Tommy Li Added phenotypes Manitoba oculotrichoanal syndrome for gene: FREM1
BabyScreen+ newborn screening v1.114 FRAS1 Tommy Li Added phenotypes Fraser syndrome 1, MIM#219000 for gene: FRAS1
BabyScreen+ newborn screening v1.114 FOXI1 Tommy Li Added phenotypes autosomal recessive distal renal tubular acidosis MONDO:0018440 for gene: FOXI1
BabyScreen+ newborn screening v1.114 FOXH1 Tommy Li Added phenotypes Congenital heart defects for gene: FOXH1
BabyScreen+ newborn screening v1.114 FOXF2 Tommy Li Added phenotypes Disorders of sex development with cleft palate for gene: FOXF2
BabyScreen+ newborn screening v1.114 FOXF1 Tommy Li Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 for gene: FOXF1
BabyScreen+ newborn screening v1.114 FOXC2 Tommy Li Added phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 for gene: FOXC2
BabyScreen+ newborn screening v1.114 FOXC1 Tommy Li Added phenotypes Axenfeld-Rieger syndrome, type 3, MIM# 602482 for gene: FOXC1
BabyScreen+ newborn screening v1.114 FMO3 Tommy Li Added phenotypes Trimethylaminuria for gene: FMO3
BabyScreen+ newborn screening v1.114 FLNC Tommy Li Added phenotypes Myofibrillar myopathy for gene: FLNC
BabyScreen+ newborn screening v1.114 FLNA Tommy Li Added phenotypes Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type II 304120; Osteodysplasty Melnick Needles 309350; FLNA-related disorders; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II -304120; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type I -311300 for gene: FLNA
BabyScreen+ newborn screening v1.114 FLG Tommy Li Added phenotypes Ichthyosis vulgaris for gene: FLG
BabyScreen+ newborn screening v1.114 FLCN Tommy Li Added phenotypes Birt-Hogg-Dube syndrome, MIM# 135150 for gene: FLCN
BabyScreen+ newborn screening v1.114 FKTN Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 for gene: FKTN
BabyScreen+ newborn screening v1.114 FKRP Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 for gene: FKRP
BabyScreen+ newborn screening v1.114 FKBPL Tommy Li Added phenotypes Infertility for gene: FKBPL
BabyScreen+ newborn screening v1.114 FHL2 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: FHL2
BabyScreen+ newborn screening v1.114 FHL1 Tommy Li Added phenotypes Emery-Dreifuss muscular dystrophy; Myofibrillar myopathy for gene: FHL1
BabyScreen+ newborn screening v1.114 FGFR2 Tommy Li Added phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Crouzon syndrome , MIM#123500; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Apert syndrome, MIM# 101200; LADD syndrome, MIM# 149730; Bent bone dysplasia syndrome, MIM# 614592; Jackson-Weiss syndrome,MIM# 123150; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600 for gene: FGFR2
BabyScreen+ newborn screening v1.114 FGFR1 Tommy Li Added phenotypes Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Pfeiffer syndrome 101600; Trigonocephaly 1 190440 for gene: FGFR1
BabyScreen+ newborn screening v1.114 FGD4 Tommy Li Added phenotypes Charcot Marie Tooth disease, type 4H, MIM#609311 for gene: FGD4
BabyScreen+ newborn screening v1.114 FGD1 Tommy Li Added phenotypes Mental retardation, X-linked syndromic 16, MIM# 305400; Aarskog-Scott syndrome, MIM # 305400 for gene: FGD1
BabyScreen+ newborn screening v1.114 FBN2 Tommy Li Added phenotypes Contractural arachnodactyly, congenital MIM#121050 for gene: FBN2
BabyScreen+ newborn screening v1.114 FBLN5 Tommy Li Added phenotypes Age-related macular degeneration; Cutis laxa for gene: FBLN5
BabyScreen+ newborn screening v1.114 FAS Tommy Li Added phenotypes Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859 for gene: FAS
BabyScreen+ newborn screening v1.114 FANCM Tommy Li Added phenotypes Fanconi anaemia for gene: FANCM
BabyScreen+ newborn screening v1.114 FANCL Tommy Li Added phenotypes Fanconi anaemia, MIM#614083; Fanconi anaemia for gene: FANCL
BabyScreen+ newborn screening v1.114 FANCF Tommy Li Added phenotypes Fanconi anaemia, MIM#603467; Fanconi anaemia for gene: FANCF
BabyScreen+ newborn screening v1.114 FANCE Tommy Li Added phenotypes Fanconi anaemia, MIM#600901; Fanconi anaemia for gene: FANCE
BabyScreen+ newborn screening v1.114 FAM58A Tommy Li Added phenotypes syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 for gene: FAM58A
BabyScreen+ newborn screening v1.114 FAM20C Tommy Li Added phenotypes Raine syndrome, MIM# 259775 for gene: FAM20C
BabyScreen+ newborn screening v1.114 FAM161A Tommy Li Added phenotypes Retinitis pigmentosa 28, 606068 for gene: FAM161A
BabyScreen+ newborn screening v1.114 FAM126A Tommy Li Added phenotypes Hypomyelinating leukodystrophy 5 MONDO:0012514 for gene: FAM126A
BabyScreen+ newborn screening v1.114 FAM111B Tommy Li Added phenotypes Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis for gene: FAM111B
BabyScreen+ newborn screening v1.114 FAAH2 Tommy Li Added phenotypes Autism spectrum disorder for gene: FAAH2
BabyScreen+ newborn screening v1.114 F5 Tommy Li Added phenotypes Factor V deficiency, MIM# 227400 MONDO:0009210; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560 for gene: F5
BabyScreen+ newborn screening v1.114 F2 Tommy Li Added phenotypes Thrombophilia due to thrombin defect MIM#188050; Dysprothrombinemia MIM#613679; Hypoprothrombinemia MIM#613679 for gene: F2
BabyScreen+ newborn screening v1.114 F11 Tommy Li Added phenotypes Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416 for gene: F11
BabyScreen+ newborn screening v1.114 EZH2 Tommy Li Added phenotypes Weaver syndrome MIM#277590 for gene: EZH2
BabyScreen+ newborn screening v1.114 EYA4 Tommy Li Added phenotypes Deafness, autosomal dominant 10, MIM# 601316 for gene: EYA4
BabyScreen+ newborn screening v1.114 EYA1 Tommy Li Added phenotypes Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588 for gene: EYA1
BabyScreen+ newborn screening v1.114 EXT2 Tommy Li Added phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 for gene: EXT2
BabyScreen+ newborn screening v1.114 EXT1 Tommy Li Added phenotypes Exostoses, multiple, type 1, MIM# 133700 for gene: EXT1
BabyScreen+ newborn screening v1.114 EVC2 Tommy Li Added phenotypes Weyers acrofacial dysostosis, MIM# 193530; Ellis-van Creveld syndrome, MIM# 225500 for gene: EVC2
BabyScreen+ newborn screening v1.114 EVC Tommy Li Added phenotypes Ellis-van Creveld syndrome, MIM# 225500 for gene: EVC
BabyScreen+ newborn screening v1.114 ESCO2 Tommy Li Added phenotypes Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300 for gene: ESCO2
BabyScreen+ newborn screening v1.114 ERCC8 Tommy Li Added phenotypes MONDO:0019569; Cockayne syndrome, type A, MIM# 216400 for gene: ERCC8
BabyScreen+ newborn screening v1.114 ERCC6 Tommy Li Added phenotypes Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955 for gene: ERCC6
BabyScreen+ newborn screening v1.114 ERCC5 Tommy Li Added phenotypes Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 for gene: ERCC5
BabyScreen+ newborn screening v1.114 ERCC3 Tommy Li Added phenotypes Xeroderma pigmentosum for gene: ERCC3
BabyScreen+ newborn screening v1.114 ERCC2 Tommy Li Added phenotypes Xeroderma pigmentosum, group D, MIM# 278730 for gene: ERCC2
BabyScreen+ newborn screening v1.114 ERCC1 Tommy Li Added phenotypes Xeroderma pigmentosum for gene: ERCC1
BabyScreen+ newborn screening v1.114 ERBB3 Tommy Li Added phenotypes Lethal congenital contractural syndrome 2 for gene: ERBB3
BabyScreen+ newborn screening v1.114 EPS8L2 Tommy Li Added phenotypes Deafness, MIM#617637 for gene: EPS8L2
BabyScreen+ newborn screening v1.114 EPM2A Tommy Li Added phenotypes Lafora disease MONDO:0009697 for gene: EPM2A
BabyScreen+ newborn screening v1.114 EPHX1 Tommy Li Added phenotypes Hypercholanemia, familial for gene: EPHX1
BabyScreen+ newborn screening v1.114 EPCAM Tommy Li Added phenotypes Lynch syndrome for gene: EPCAM
BabyScreen+ newborn screening v1.114 EPB42 Tommy Li Added phenotypes Spherocytosis for gene: EPB42
BabyScreen+ newborn screening v1.114 EMD Tommy Li Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 for gene: EMD
BabyScreen+ newborn screening v1.114 ELP1 Tommy Li Added phenotypes paediatric medulloblastoma; Dysautonomia, familial MIM#223900 for gene: ELP1
BabyScreen+ newborn screening v1.114 ELN Tommy Li Added phenotypes supravalvular aortic stenosis MONDO:0008504; cutis laxa, autosomal dominant 1 MONDO:0007411 for gene: ELN
BabyScreen+ newborn screening v1.114 EIF2B1 Tommy Li Added phenotypes Leukoencephalopathy with vanishing white matter for gene: EIF2B1
BabyScreen+ newborn screening v1.114 EGR2 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253 for gene: EGR2
BabyScreen+ newborn screening v1.114 EFTUD2 Tommy Li Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 for gene: EFTUD2
BabyScreen+ newborn screening v1.114 EFHC1 Tommy Li Added phenotypes {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 for gene: EFHC1
Publications for gene EFHC1 were updated from 33181902; 28370826; 33969125; 29750216; 31056551 to 28370826; 33181902; 31056551; 29750216; 33969125
BabyScreen+ newborn screening v1.114 EFEMP2 Tommy Li Added phenotypes Cutis laxa, autosomal recessive, type IB for gene: EFEMP2
BabyScreen+ newborn screening v1.114 EDARADD Tommy Li Added phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 for gene: EDARADD
BabyScreen+ newborn screening v1.114 EDAR Tommy Li Added phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 for gene: EDAR
BabyScreen+ newborn screening v1.114 EDA Tommy Li Added phenotypes Tooth agenesis, selective, X-linked 1 MIM#313500; Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 for gene: EDA
BabyScreen+ newborn screening v1.114 ECE1 Tommy Li Added phenotypes Hirschsprung disease for gene: ECE1
BabyScreen+ newborn screening v1.114 DYSF Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130 for gene: DYSF
BabyScreen+ newborn screening v1.114 DTNBP1 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 7 for gene: DTNBP1
BabyScreen+ newborn screening v1.114 DTNA Tommy Li Added phenotypes Left ventricular noncompaction 1 for gene: DTNA
BabyScreen+ newborn screening v1.114 DTHD1 Tommy Li Added phenotypes Leber congenital amaurosis with myopathy for gene: DTHD1
BabyScreen+ newborn screening v1.114 DPYD Tommy Li Added phenotypes Dihydropyrimidine dehydrogenase deficiency for gene: DPYD
BabyScreen+ newborn screening v1.114 DPP6 Tommy Li Added phenotypes Ventricular fibrillation, paroxysmal familial, 2 for gene: DPP6
BabyScreen+ newborn screening v1.114 DPM1 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ie for gene: DPM1
BabyScreen+ newborn screening v1.114 DOLK Tommy Li Added phenotypes DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768 for gene: DOLK
Publications for gene DOLK were updated from 30653653; 22242004; 23890587; 17273964; 28816422; 24144945 to 23890587; 24144945; 30653653; 17273964; 22242004; 28816422
BabyScreen+ newborn screening v1.114 DNM2 Tommy Li Added phenotypes Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 for gene: DNM2
BabyScreen+ newborn screening v1.114 DNAL1 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAL1
BabyScreen+ newborn screening v1.114 DNAJC5 Tommy Li Added phenotypes Neuronal ceroid lipofuscinosis, adult-onset for gene: DNAJC5
BabyScreen+ newborn screening v1.114 DNAJC19 Tommy Li Added phenotypes 3-methylglutaconic aciduria, type V for gene: DNAJC19
BabyScreen+ newborn screening v1.114 DNAJB6 Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511 for gene: DNAJB6
BabyScreen+ newborn screening v1.114 DNAI2 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAI2
BabyScreen+ newborn screening v1.114 DNAI1 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 for gene: DNAI1
BabyScreen+ newborn screening v1.114 DNAH5 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644 for gene: DNAH5
BabyScreen+ newborn screening v1.114 DNAH11 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 for gene: DNAH11
BabyScreen+ newborn screening v1.114 DNAAF5 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAAF5
BabyScreen+ newborn screening v1.114 DNAAF3 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAAF3
BabyScreen+ newborn screening v1.114 DNAAF2 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: DNAAF2
BabyScreen+ newborn screening v1.114 DNAAF1 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 for gene: DNAAF1
BabyScreen+ newborn screening v1.114 DMXL2 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 81, MIM#618663 for gene: DMXL2
BabyScreen+ newborn screening v1.114 DMPK Tommy Li Added phenotypes Myotonic dystrophy 1, MIM# 160900 for gene: DMPK
BabyScreen+ newborn screening v1.114 DLL3 Tommy Li Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 for gene: DLL3
BabyScreen+ newborn screening v1.114 DLD Tommy Li Added phenotypes Maple syrup urine disease, type III, MIM#246900 for gene: DLD
BabyScreen+ newborn screening v1.114 DLC1 Tommy Li Added phenotypes Congenital heart disease for gene: DLC1
BabyScreen+ newborn screening v1.114 DKC1 Tommy Li Added phenotypes Dyskeratosis congenita, X-linked, MIM# 305000 for gene: DKC1
BabyScreen+ newborn screening v1.114 DIAPH1 Tommy Li Added phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 for gene: DIAPH1
BabyScreen+ newborn screening v1.114 DIABLO Tommy Li Added phenotypes Deafness, autosomal dominant for gene: DIABLO
BabyScreen+ newborn screening v1.114 DHCR24 Tommy Li Added phenotypes Desmosterolosis for gene: DHCR24
BabyScreen+ newborn screening v1.114 DGUOK Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 for gene: DGUOK
BabyScreen+ newborn screening v1.114 DGKE Tommy Li Added phenotypes Haemolytic uraemic syndrome, atypical for gene: DGKE
BabyScreen+ newborn screening v1.114 DFNA5 Tommy Li Added phenotypes Deafness, autosomal dominant 5, MIM# 600994 for gene: DFNA5
BabyScreen+ newborn screening v1.114 DECR1 Tommy Li Added phenotypes 2,4-Dienoyl-CoA reductase deficiency for gene: DECR1
BabyScreen+ newborn screening v1.114 DDR2 Tommy Li Added phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175 for gene: DDR2
BabyScreen+ newborn screening v1.114 DDOST Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ir for gene: DDOST
BabyScreen+ newborn screening v1.114 DDHD1 Tommy Li Added phenotypes Spastic paraplegia for gene: DDHD1
BabyScreen+ newborn screening v1.114 DDB2 Tommy Li Added phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 for gene: DDB2
Publications for gene DDB2 were updated from 32530099; 32228487 to 32530099; 32228487
BabyScreen+ newborn screening v1.114 DCX Tommy Li Added phenotypes Subcortical laminal heterotopia, X-linked 300067; Lissencephaly, X-linked, MIM# 300067 for gene: DCX
BabyScreen+ newborn screening v1.114 DCTN1 Tommy Li Added phenotypes Amyotrophic lateral sclerosis for gene: DCTN1
BabyScreen+ newborn screening v1.114 DBH Tommy Li Added phenotypes Dopamine beta-hydroxylase deficiency for gene: DBH
BabyScreen+ newborn screening v1.114 DAPK3 Tommy Li Added phenotypes Congenital heart disease for gene: DAPK3
BabyScreen+ newborn screening v1.114 DAG1 Tommy Li Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 for gene: DAG1
BabyScreen+ newborn screening v1.114 D2HGDH Tommy Li Added phenotypes D-2-hydroxyglutaric aciduria MIM#600721 for gene: D2HGDH
BabyScreen+ newborn screening v1.114 CYP7A1 Tommy Li Added phenotypes Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency for gene: CYP7A1
BabyScreen+ newborn screening v1.114 CYP4F22 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 for gene: CYP4F22
BabyScreen+ newborn screening v1.114 CYCS Tommy Li Added phenotypes Thrombocytopenia 4 for gene: CYCS
BabyScreen+ newborn screening v1.114 CUL7 Tommy Li Added phenotypes 3-M syndrome 1, MIM# 273750 for gene: CUL7
BabyScreen+ newborn screening v1.114 CTSK Tommy Li Added phenotypes Pycnodysostosis - MIM#265800 for gene: CTSK
BabyScreen+ newborn screening v1.114 CTSD Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 for gene: CTSD
BabyScreen+ newborn screening v1.114 CTR9 Tommy Li Added phenotypes Wilms tumour predisposition for gene: CTR9
BabyScreen+ newborn screening v1.114 CTF1 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: CTF1
BabyScreen+ newborn screening v1.114 CTDP1 Tommy Li Added phenotypes Congenital cataracts - facial dysmorphism - neuropathy for gene: CTDP1
BabyScreen+ newborn screening v1.114 CTC1 Tommy Li Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 for gene: CTC1
BabyScreen+ newborn screening v1.114 CSTB Tommy Li Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 for gene: CSTB
BabyScreen+ newborn screening v1.114 CSTA Tommy Li Added phenotypes Exfoliative ichthyosis for gene: CSTA
BabyScreen+ newborn screening v1.114 CSRP3 Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic, 12; Cardiomyopathy, dilated, 1M for gene: CSRP3
BabyScreen+ newborn screening v1.114 CSF2RB Tommy Li Added phenotypes Pulmonary alveolar proteinosis for gene: CSF2RB
BabyScreen+ newborn screening v1.114 CSF2RA Tommy Li Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 for gene: CSF2RA
Publications for gene CSF2RA were updated from 25425184; 18955570; 20622029 to 18955570; 25425184; 20622029
BabyScreen+ newborn screening v1.114 CSF1R Tommy Li Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids for gene: CSF1R
BabyScreen+ newborn screening v1.114 CRYM Tommy Li Added phenotypes Deafness, autosomal dominant 40 MIM#616357 for gene: CRYM
BabyScreen+ newborn screening v1.114 CRLF1 Tommy Li Added phenotypes Cold-induced sweating syndrome 1, MIM# 272430 for gene: CRLF1
BabyScreen+ newborn screening v1.114 CRELD1 Tommy Li Added phenotypes Cardiac atrioventricular septal defect for gene: CRELD1
BabyScreen+ newborn screening v1.114 CREBBP Tommy Li Added phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332 for gene: CREBBP
BabyScreen+ newborn screening v1.114 CR2 Tommy Li Added phenotypes Immunodeficiency, common variable, 7, MIM# 614699 for gene: CR2
BabyScreen+ newborn screening v1.114 CPZ Tommy Li Added phenotypes Autism for gene: CPZ
BabyScreen+ newborn screening v1.114 CPOX Tommy Li Added phenotypes Coproporphyria; Coproporphyria , MIM#121300 for gene: CPOX
BabyScreen+ newborn screening v1.114 COX4I2 Tommy Li Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
BabyScreen+ newborn screening v1.114 COQ9 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 5 , MIM#614654 for gene: COQ9
BabyScreen+ newborn screening v1.114 COQ8B Tommy Li Added phenotypes Nephrotic syndrome, type 9, MIM# 615573 for gene: COQ8B
BabyScreen+ newborn screening v1.114 COL7A1 Tommy Li Added phenotypes EBD inversa, MIM# 226600; Epidermolysis bullosa, pretibial, MIM# 131850; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Transient bullous of the newborn 131705 for gene: COL7A1
BabyScreen+ newborn screening v1.114 COL6A3 Tommy Li Added phenotypes Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090; Dystonia 27 MIM#616411 for gene: COL6A3
BabyScreen+ newborn screening v1.114 COL6A2 Tommy Li Added phenotypes Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090 for gene: COL6A2
BabyScreen+ newborn screening v1.114 COL6A1 Tommy Li Added phenotypes Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090 for gene: COL6A1
BabyScreen+ newborn screening v1.114 COL5A2 Tommy Li Added phenotypes Ehlers-Danlos syndrome, classic type, 2 MIM#130010 for gene: COL5A2
BabyScreen+ newborn screening v1.114 COL5A1 Tommy Li Added phenotypes Fibromuscular dysplasia, multifocal, MIM# 619329; Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 for gene: COL5A1
BabyScreen+ newborn screening v1.114 COL4A6 Tommy Li Added phenotypes Deafness, X-linked 6 MIM#300914 for gene: COL4A6
BabyScreen+ newborn screening v1.114 COL17A1 Tommy Li Added phenotypes Epidermolysis bullosa, junctional 4, intermediate MIM#619787 for gene: COL17A1
BabyScreen+ newborn screening v1.114 COG7 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIe for gene: COG7
BabyScreen+ newborn screening v1.114 COG5 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 for gene: COG5
Publications for gene COG5 were updated from 32174980; 23228021; 31572517 to 23228021; 32174980; 31572517
BabyScreen+ newborn screening v1.114 COG4 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIj for gene: COG4
BabyScreen+ newborn screening v1.114 CNTNAP2 Tommy Li Added phenotypes Autism spectrum disorder for gene: CNTNAP2
BabyScreen+ newborn screening v1.114 CNGB3 Tommy Li Added phenotypes Achromatopsia 3, MIM# 262300 for gene: CNGB3
BabyScreen+ newborn screening v1.114 CLRN1 Tommy Li Added phenotypes Usher syndrome, type 3A, MIM# 276902 for gene: CLRN1
BabyScreen+ newborn screening v1.114 CLN8 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 for gene: CLN8
BabyScreen+ newborn screening v1.114 CLMP Tommy Li Added phenotypes Congenital short-bowel syndrome for gene: CLMP
BabyScreen+ newborn screening v1.114 CLDN9 Tommy Li Added phenotypes Deafness, autosomal recessive 116 MIM#619093 for gene: CLDN9
BabyScreen+ newborn screening v1.114 CLDN19 Tommy Li Added phenotypes Deafness, autosomal recessive 116 MIM#619093 for gene: CLDN19
BabyScreen+ newborn screening v1.114 CLDN1 Tommy Li Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis for gene: CLDN1
BabyScreen+ newborn screening v1.114 CLCN5 Tommy Li Added phenotypes Dent disease, MIM#300009 for gene: CLCN5
BabyScreen+ newborn screening v1.114 CLCN1 Tommy Li Added phenotypes Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800 for gene: CLCN1
BabyScreen+ newborn screening v1.114 CITED2 Tommy Li Added phenotypes Congenital heart defects for gene: CITED2
BabyScreen+ newborn screening v1.114 CISD2 Tommy Li Added phenotypes Wolfram syndrome for gene: CISD2
BabyScreen+ newborn screening v1.114 CHSY1 Tommy Li Added phenotypes Temtamy preaxial brachydactyly syndrome for gene: CHSY1
BabyScreen+ newborn screening v1.114 CHST3 Tommy Li Added phenotypes Larsen syndrome for gene: CHST3
BabyScreen+ newborn screening v1.114 CHRNG Tommy Li Added phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290; Escobar syndrome, MIM# 265000 for gene: CHRNG
BabyScreen+ newborn screening v1.114 CHRNA2 Tommy Li Added phenotypes Epilepsy for gene: CHRNA2
BabyScreen+ newborn screening v1.114 CHRM2 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: CHRM2
BabyScreen+ newborn screening v1.114 CHM Tommy Li Added phenotypes Choroideraemia MIM#303100 for gene: CHM
BabyScreen+ newborn screening v1.114 CHKB Tommy Li Added phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 for gene: CHKB
BabyScreen+ newborn screening v1.114 CHEK2 Tommy Li Added phenotypes Breast cancer, susceptibility to for gene: CHEK2
BabyScreen+ newborn screening v1.114 CHD7 Tommy Li Added phenotypes CHARGE syndrome, MIM# 214800 for gene: CHD7
BabyScreen+ newborn screening v1.114 CHD2 Tommy Li Added phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) for gene: CHD2
BabyScreen+ newborn screening v1.114 CFL2 Tommy Li Added phenotypes Nemaline myopathy 7, autosomal recessive, MIM# 610687 for gene: CFL2
BabyScreen+ newborn screening v1.114 CFHR5 Tommy Li Added phenotypes Haemolytic uraemic syndrome for gene: CFHR5
BabyScreen+ newborn screening v1.114 CFHR4 Tommy Li Added phenotypes Hemolytic-uremic syndrome, atypical, susceptibility to for gene: CFHR4
BabyScreen+ newborn screening v1.114 CFHR3 Tommy Li Added phenotypes Haemolytic uraemic syndrome for gene: CFHR3
BabyScreen+ newborn screening v1.114 CFHR1 Tommy Li Added phenotypes Haemolytic uraemic syndrome for gene: CFHR1
BabyScreen+ newborn screening v1.114 CFC1 Tommy Li Added phenotypes Heterotaxy, visceral, 2, autosomal MIM#605376 for gene: CFC1
BabyScreen+ newborn screening v1.114 CFB Tommy Li Added phenotypes Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924; Haemolytic uraemic syndrome for gene: CFB
BabyScreen+ newborn screening v1.114 CEP83 Tommy Li Added phenotypes Nephronophthisis 18, MIM# 615862; Retinal dystrophy; MONDO:0014374; ID for gene: CEP83
BabyScreen+ newborn screening v1.114 CEP78 Tommy Li Added phenotypes Cone-rod dystrophy and hearing loss MIM#617236 for gene: CEP78
BabyScreen+ newborn screening v1.114 CEP41 Tommy Li Added phenotypes Joubert syndrome for gene: CEP41
BabyScreen+ newborn screening v1.114 CEP290 Tommy Li Added phenotypes Senior-Loken syndrome 6, MIM# 610189; Meckel syndrome 4, MIM# 611134; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Bardet-Biedl syndrome 14, MIM# 615991 for gene: CEP290
BabyScreen+ newborn screening v1.114 CEP250 Tommy Li Added phenotypes Cone-rod dystrophy and hearing loss 2 MIM#618358 for gene: CEP250
BabyScreen+ newborn screening v1.114 CEP152 Tommy Li Added phenotypes Seckel syndrome 5, MIM# 613823; Microcephaly 9, primary, autosomal recessive, MIM# 614852 for gene: CEP152
BabyScreen+ newborn screening v1.114 CENPJ Tommy Li Added phenotypes Primary microcephaly for gene: CENPJ
BabyScreen+ newborn screening v1.114 CEACAM16 Tommy Li Added phenotypes Hearing loss, autosomal dominant for gene: CEACAM16
BabyScreen+ newborn screening v1.114 CDT1 Tommy Li Added phenotypes MONDO:0013431; Meier-Gorlin syndrome 4, MIM# 613804 for gene: CDT1
Publications for gene CDT1 were updated from 22333897; 21358632; 21358631; 33338304 to 22333897; 33338304; 21358632; 21358631
BabyScreen+ newborn screening v1.114 CDSN Tommy Li Added phenotypes Peeling skin syndrome 1, MIM#270300 for gene: CDSN
BabyScreen+ newborn screening v1.114 CDON Tommy Li Added phenotypes Holoprosencephaly for gene: CDON
BabyScreen+ newborn screening v1.114 CDKN2A Tommy Li Added phenotypes {Melanoma, cutaneous malignant, 2}, MIM# 155601 for gene: CDKN2A
BabyScreen+ newborn screening v1.114 CDKL5 Tommy Li Added phenotypes Epileptic encephalopathy, early infantile, 2, MIM 300672 for gene: CDKL5
BabyScreen+ newborn screening v1.114 CDK5RAP2 Tommy Li Added phenotypes MONDO:0011488; Microcephaly 3, primary, autosomal recessive, MIM# 604804 for gene: CDK5RAP2
BabyScreen+ newborn screening v1.114 CDH1 Tommy Li Added phenotypes Gastric cancer; Orofacial clefts for gene: CDH1
BabyScreen+ newborn screening v1.114 CDAN1 Tommy Li Added phenotypes Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 for gene: CDAN1
BabyScreen+ newborn screening v1.114 CD96 Tommy Li Added phenotypes C syndrome for gene: CD96
BabyScreen+ newborn screening v1.114 CD81 Tommy Li Added phenotypes Immunodeficiency, common variable, 6, MIM# 613496 for gene: CD81
BabyScreen+ newborn screening v1.114 CD46 Tommy Li Added phenotypes Haemolytic uraemic syndrome for gene: CD46
BabyScreen+ newborn screening v1.114 CD36 Tommy Li Added phenotypes Platelet glycoprotein IV deficiency for gene: CD36
BabyScreen+ newborn screening v1.114 CD2AP Tommy Li Added phenotypes Glomerulosclerosis, focal segmental, 3 for gene: CD2AP
BabyScreen+ newborn screening v1.114 CD164 Tommy Li Added phenotypes Deafness, autosomal dominant 66 MIM#616969 for gene: CD164
BabyScreen+ newborn screening v1.114 CCDC88C Tommy Li Added phenotypes Hydrocephalus for gene: CCDC88C
BabyScreen+ newborn screening v1.114 CCDC78 Tommy Li Added phenotypes Congenital myopathy with prominent internal nuclei and atypical cores for gene: CCDC78
BabyScreen+ newborn screening v1.114 CCDC50 Tommy Li Added phenotypes Deafness, autosomal dominant 44 , MIM# 607453 for gene: CCDC50
Publications for gene CCDC50 were updated from 27911912; 24875298; 17503326 to 17503326; 27911912; 24875298
BabyScreen+ newborn screening v1.114 CCDC40 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 for gene: CCDC40
BabyScreen+ newborn screening v1.114 CCDC39 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 for gene: CCDC39
BabyScreen+ newborn screening v1.114 CCDC103 Tommy Li Added phenotypes Primary ciliary dyskinesia for gene: CCDC103
BabyScreen+ newborn screening v1.114 CC2D2A Tommy Li Added phenotypes Meckel syndrome 6, MIM# 612284; Joubert syndrome 9, MIM# 612285; COACH syndrome 2, MIM# 619111 for gene: CC2D2A
BabyScreen+ newborn screening v1.114 CBL Tommy Li Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 for gene: CBL
BabyScreen+ newborn screening v1.114 CAVIN4 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: CAVIN4
BabyScreen+ newborn screening v1.114 CAV3 Tommy Li Added phenotypes Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320 for gene: CAV3
BabyScreen+ newborn screening v1.114 CASP10 Tommy Li Added phenotypes Autoimmune lymphoproliferative syndrome II for gene: CASP10
BabyScreen+ newborn screening v1.114 CASK Tommy Li Added phenotypes FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422 for gene: CASK
BabyScreen+ newborn screening v1.114 CARS2 Tommy Li Added phenotypes Epileptic encephalopathy for gene: CARS2
BabyScreen+ newborn screening v1.114 CAPN3 Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 for gene: CAPN3
BabyScreen+ newborn screening v1.114 CACNB2 Tommy Li Added phenotypes Brugada syndrome for gene: CACNB2
BabyScreen+ newborn screening v1.114 CACNA2D1 Tommy Li Added phenotypes Brugada syndrome for gene: CACNA2D1
BabyScreen+ newborn screening v1.114 CACNA1F Tommy Li Added phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Cone-rod dystrophy, X-linked, 3 MIM#300476; Aland Island eye disease MIM#300600 for gene: CACNA1F
BabyScreen+ newborn screening v1.114 CACNA1D Tommy Li Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; Sinoatrial node dysfunction and deafness for gene: CACNA1D
BabyScreen+ newborn screening v1.114 CACNA1A Tommy Li Added phenotypes Episodic ataxia, type 2, MIM# 108500 for gene: CACNA1A
BabyScreen+ newborn screening v1.114 C8A Tommy Li Added phenotypes C8 deficiency, type I, MIM# 613790 for gene: C8A
BabyScreen+ newborn screening v1.114 BVES Tommy Li Added phenotypes Congenital heart disease for gene: BVES
BabyScreen+ newborn screening v1.114 BRAF Tommy Li Added phenotypes Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150 for gene: BRAF
BabyScreen+ newborn screening v1.114 BPGM Tommy Li Added phenotypes Erythrocytosis due to bisphosphoglycerate mutase deficiency for gene: BPGM
BabyScreen+ newborn screening v1.114 BNC2 Tommy Li Added phenotypes Total anomalous pulmonary venous return for gene: BNC2
BabyScreen+ newborn screening v1.114 BMPR2 Tommy Li Added phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600 for gene: BMPR2
BabyScreen+ newborn screening v1.114 BMPR1A Tommy Li Added phenotypes Polyposis, juvenile intestinal, MIM# 174900 for gene: BMPR1A
BabyScreen+ newborn screening v1.114 BLOC1S6 Tommy Li Added phenotypes Hermansky-pudlak syndrome 9 for gene: BLOC1S6
BabyScreen+ newborn screening v1.114 BLOC1S3 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
BabyScreen+ newborn screening v1.114 BLM Tommy Li Added phenotypes Bloom syndrome, MIM# 210900 for gene: BLM
BabyScreen+ newborn screening v1.114 BIN1 Tommy Li Added phenotypes Centronuclear myopathy 2, MIM# 255200 for gene: BIN1
BabyScreen+ newborn screening v1.114 BICD2 Tommy Li Added phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related for gene: BICD2
Publications for gene BICD2 were updated from 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393; 35896821 to 23664120; 30054298; 28635954; 29528393; 35896821; 27751653; 23664116; 23664119
BabyScreen+ newborn screening v1.114 BDNF Tommy Li Added phenotypes Central hypoventilation syndrome for gene: BDNF
BabyScreen+ newborn screening v1.114 BCS1L Tommy Li Added phenotypes BCS1L-related mitochondrial disease; Leigh syndrome, MIM# 256000; Bjornstad syndrome, MIM# 262000 for gene: BCS1L
BabyScreen+ newborn screening v1.114 BCL9 Tommy Li Added phenotypes Congenital heart disease for gene: BCL9
BabyScreen+ newborn screening v1.114 BBS9 Tommy Li Added phenotypes Bardet-Biedl syndrome 9, MIM#615986 for gene: BBS9
BabyScreen+ newborn screening v1.114 BBS7 Tommy Li Added phenotypes Bardet-Biedl syndrome 7, MIM# 615984 for gene: BBS7
BabyScreen+ newborn screening v1.114 BBS5 Tommy Li Added phenotypes Bardet-Biedl syndrome 5, MIM#615983 for gene: BBS5
BabyScreen+ newborn screening v1.114 BBS4 Tommy Li Added phenotypes Bardet-Biedl syndrome 4, MIM#615982 for gene: BBS4
BabyScreen+ newborn screening v1.114 BBS2 Tommy Li Added phenotypes Bardet-Biedl syndrome 2, MIM# 615981 for gene: BBS2
BabyScreen+ newborn screening v1.114 BBS12 Tommy Li Added phenotypes Bardet-Biedl syndrome 12, MIM# 615989 for gene: BBS12
BabyScreen+ newborn screening v1.114 BBS10 Tommy Li Added phenotypes Bardet-Biedl syndrome 10, MIM# 615987 for gene: BBS10
BabyScreen+ newborn screening v1.114 BBS1 Tommy Li Added phenotypes Bardet-Biedl syndrome 1, MIM# 209900 for gene: BBS1
BabyScreen+ newborn screening v1.114 BARD1 Tommy Li Added phenotypes Tetralogy of Fallot for gene: BARD1
BabyScreen+ newborn screening v1.114 BANF1 Tommy Li Added phenotypes Progeroid syndrome for gene: BANF1
BabyScreen+ newborn screening v1.114 BAG3 Tommy Li Added phenotypes Myopathy, myofibrillar; Cardiomyopathy, dilated for gene: BAG3
BabyScreen+ newborn screening v1.114 BAAT Tommy Li Added phenotypes Bile acid conjugation defect 1, MIM# 619232 for gene: BAAT
BabyScreen+ newborn screening v1.114 B9D2 Tommy Li Added phenotypes Meckel syndrome for gene: B9D2
BabyScreen+ newborn screening v1.114 B4GALT1 Tommy Li Added phenotypes CDG syndrome type IId for gene: B4GALT1
BabyScreen+ newborn screening v1.114 B3GLCT Tommy Li Added phenotypes Peters-plus syndrome, MIM#261540 for gene: B3GLCT
BabyScreen+ newborn screening v1.114 B3GAT3 Tommy Li Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects for gene: B3GAT3
BabyScreen+ newborn screening v1.114 AXL Tommy Li Added phenotypes Hypogonadotropic hypogonadism for gene: AXL
BabyScreen+ newborn screening v1.114 AUH Tommy Li Added phenotypes 3-methylglutaconic aciduria, type I , MIM#250950 for gene: AUH
BabyScreen+ newborn screening v1.114 ATRX Tommy Li Added phenotypes ATR-X-related syndrome MONDO:0016980 for gene: ATRX
BabyScreen+ newborn screening v1.114 ATR Tommy Li Added phenotypes Seckel syndrome for gene: ATR
BabyScreen+ newborn screening v1.114 ATP8B1 Tommy Li Added phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 for gene: ATP8B1
BabyScreen+ newborn screening v1.114 ATP6V0A2 Tommy Li Added phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250 for gene: ATP6V0A2
BabyScreen+ newborn screening v1.114 ATP6AP2 Tommy Li Added phenotypes X-linked recessive intellectual deficit - epilepsy for gene: ATP6AP2
BabyScreen+ newborn screening v1.114 ATP2B2 Tommy Li Added phenotypes Deafness, autosomal dominant 82, MIM# 619804 for gene: ATP2B2
BabyScreen+ newborn screening v1.114 ATP2A1 Tommy Li Added phenotypes Brody myopathy, OMIM # 601003 for gene: ATP2A1
BabyScreen+ newborn screening v1.114 ATP1A3 Tommy Li Added phenotypes Rapid-onset dystonia-parkinsonism for gene: ATP1A3
BabyScreen+ newborn screening v1.114 ATP1A2 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 98, MIM# 619605; Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 for gene: ATP1A2
BabyScreen+ newborn screening v1.114 ATN1 Tommy Li Added phenotypes Dentatorubral-pallidoluysian atrophy 1 for gene: ATN1
BabyScreen+ newborn screening v1.114 ATM Tommy Li Added phenotypes Ataxia-telangiectasia, MIM# 208900 for gene: ATM
BabyScreen+ newborn screening v1.114 ATIC Tommy Li Added phenotypes AICA-Ribosiduria for gene: ATIC
BabyScreen+ newborn screening v1.114 ASPA Tommy Li Added phenotypes Canavan disease MIM#271900 for gene: ASPA
BabyScreen+ newborn screening v1.114 ASNS Tommy Li Added phenotypes Microcephaly, intellectual disability, cerebral atrophy & intractable seizures for gene: ASNS
BabyScreen+ newborn screening v1.114 ASCL1 Tommy Li Added phenotypes Congenital central hypoventilation for gene: ASCL1
BabyScreen+ newborn screening v1.114 ARX Tommy Li Added phenotypes Lissencephaly, X-linked 2, MIM# 300215 for gene: ARX
BabyScreen+ newborn screening v1.114 ARSE Tommy Li Added phenotypes Chondrodysplasia punctata, X-linked recessive for gene: ARSE
BabyScreen+ newborn screening v1.114 ARMC4 Tommy Li Added phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 for gene: ARMC4
BabyScreen+ newborn screening v1.114 ARL13B Tommy Li Added phenotypes Joubert syndrome for gene: ARL13B
BabyScreen+ newborn screening v1.114 ARID1B Tommy Li Added phenotypes Coffin-Siris syndrome 1 MIM#135900 for gene: ARID1B
BabyScreen+ newborn screening v1.114 ARID1A Tommy Li Added phenotypes Coffin-Siris syndrome for gene: ARID1A
BabyScreen+ newborn screening v1.114 ARHGEF9 Tommy Li Added phenotypes Hyperekplexia and epilepsy for gene: ARHGEF9
BabyScreen+ newborn screening v1.114 ARHGAP31 Tommy Li Added phenotypes Syndromic cutis aplasia & limb anomalies for gene: ARHGAP31
BabyScreen+ newborn screening v1.114 ARFGEF2 Tommy Li Added phenotypes Periventricular heterotopia with microcephaly (MIM#608097) for gene: ARFGEF2
BabyScreen+ newborn screening v1.114 AR Tommy Li Added phenotypes Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300 for gene: AR
BabyScreen+ newborn screening v1.114 APTX Tommy Li Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 for gene: APTX
Publications for gene APTX were updated from 30986824; 26256098; 11586299 to 26256098; 11586299; 30986824
BabyScreen+ newborn screening v1.114 APRT Tommy Li Added phenotypes Adenine phosphoribosyltransferase deficiency, MIM# 614723 for gene: APRT
BabyScreen+ newborn screening v1.114 APP Tommy Li Added phenotypes Alzheimer disease 1, familial for gene: APP
BabyScreen+ newborn screening v1.114 APOE Tommy Li Added phenotypes Sea-blue histiocyte disease for gene: APOE
BabyScreen+ newborn screening v1.114 APOB Tommy Li Added phenotypes Hypercholesterolaemia, familial, 2, MIM# 144010 for gene: APOB
BabyScreen+ newborn screening v1.114 APOA5 Tommy Li Added phenotypes Hyperchylomicronaemia, late-onset, MIM# 144650 for gene: APOA5
Publications for gene APOA5 were updated from 23307945; 31390500 to 31390500; 23307945
BabyScreen+ newborn screening v1.114 APC Tommy Li Added phenotypes Adenomatous polyposis coli, MIM# 175100 for gene: APC
BabyScreen+ newborn screening v1.114 AP4M1 Tommy Li Added phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 for gene: AP4M1
Publications for gene AP4M1 were updated from 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665 to 31915823; 25496299; 29096665; 32979048; 21937992; 19559397; 28464862
BabyScreen+ newborn screening v1.114 AP4E1 Tommy Li Added phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 for gene: AP4E1
Publications for gene AP4E1 were updated from 20972249; 32979048; 23472171; 21620353; 21937992 to 20972249; 32979048; 21620353; 21937992; 23472171
BabyScreen+ newborn screening v1.114 AP4B1 Tommy Li Added phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 for gene: AP4B1
Publications for gene AP4B1 were updated from 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758 to 32171285; 24700674; 22290197; 24781758; 32166732; 21620353; 32979048; 31525725
BabyScreen+ newborn screening v1.114 AP1S3 Tommy Li Added phenotypes Pustular psoriasis for gene: AP1S3
BabyScreen+ newborn screening v1.114 ANTXR2 Tommy Li Added phenotypes MONDO:0009229; Hyaline fibromatosis syndrome, MIM# 228600 for gene: ANTXR2
BabyScreen+ newborn screening v1.114 ANO5 Tommy Li Added phenotypes Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia for gene: ANO5
BabyScreen+ newborn screening v1.114 ANO10 Tommy Li Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, MIM#613728 for gene: ANO10
BabyScreen+ newborn screening v1.114 ANKRD26 Tommy Li Added phenotypes Thrombocytopaenia 2, MIM# 188000 for gene: ANKRD26
BabyScreen+ newborn screening v1.114 ANKRD1 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated for gene: ANKRD1
BabyScreen+ newborn screening v1.114 ANKH Tommy Li Added phenotypes Craniometaphyseal dysplasia MIM#123000 for gene: ANKH
BabyScreen+ newborn screening v1.114 ANK2 Tommy Li Added phenotypes Complex neurodevelopmental disorder, MONDO:0100038 for gene: ANK2
BabyScreen+ newborn screening v1.114 ANK1 Tommy Li Added phenotypes Spherocytosis, type 1 MIM#182900 for gene: ANK1
BabyScreen+ newborn screening v1.114 AMPD1 Tommy Li Added phenotypes Adenosine monophosphate deaminase deficiency for gene: AMPD1
BabyScreen+ newborn screening v1.114 AMELX Tommy Li Added phenotypes Amelogenesis imperfecta, type 1E, MIM# 301200 for gene: AMELX
BabyScreen+ newborn screening v1.114 ALX4 Tommy Li Added phenotypes {Craniosynostosis 5, susceptibility to} MIM#615529; Parietal foramina 2 MIM# 609597; Frontonasal dysplasia 2 MIM# 613451 for gene: ALX4
BabyScreen+ newborn screening v1.114 ALS2 Tommy Li Added phenotypes Juvenile primary lateral sclerosis (MIM#606353); Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100) for gene: ALS2
BabyScreen+ newborn screening v1.114 ALOXE3 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 3, MIM#606545 for gene: ALOXE3
BabyScreen+ newborn screening v1.114 ALOX12B Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 for gene: ALOX12B
BabyScreen+ newborn screening v1.114 ALMS1 Tommy Li Added phenotypes Alstrom syndrome, MIM# 203800 for gene: ALMS1
BabyScreen+ newborn screening v1.114 ALK Tommy Li Added phenotypes {Neuroblastoma, susceptibility to, 3} MIM#613014 for gene: ALK
BabyScreen+ newborn screening v1.114 ALG9 Tommy Li Added phenotypes Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776 for gene: ALG9
BabyScreen+ newborn screening v1.114 ALG8 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 for gene: ALG8
BabyScreen+ newborn screening v1.114 ALG6 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) for gene: ALG6
BabyScreen+ newborn screening v1.114 ALG3 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 for gene: ALG3
BabyScreen+ newborn screening v1.114 ALG2 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ii for gene: ALG2
BabyScreen+ newborn screening v1.114 ALG14 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Disorder of N-glycosylation; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 for gene: ALG14
BabyScreen+ newborn screening v1.114 ALG12 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 for gene: ALG12
BabyScreen+ newborn screening v1.114 ALG11 Tommy Li Added phenotypes Congenital disorder of glycosylation type 1P for gene: ALG11
BabyScreen+ newborn screening v1.114 ALG1 Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1
BabyScreen+ newborn screening v1.114 ALDOA Tommy Li Added phenotypes Aldolase A deficiency for gene: ALDOA
BabyScreen+ newborn screening v1.114 ALDH5A1 Tommy Li Added phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 for gene: ALDH5A1
BabyScreen+ newborn screening v1.114 ALDH3A2 Tommy Li Added phenotypes Sjogren-Larsson syndrome MIM#270200 for gene: ALDH3A2
BabyScreen+ newborn screening v1.114 ALDH1A2 Tommy Li Added phenotypes Tetralogy of Fallot for gene: ALDH1A2
BabyScreen+ newborn screening v1.114 ALDH18A1 Tommy Li Added phenotypes Spastic paraplegia 9A, autosomal dominant MIM#601162; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism; Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9B, autosomal recessive MIM#616586 for gene: ALDH18A1
BabyScreen+ newborn screening v1.114 ALB Tommy Li Added phenotypes Analbuminemia, MIM# 616000 for gene: ALB
BabyScreen+ newborn screening v1.114 ALAS2 Tommy Li Added phenotypes Protoporphyria, erythropoietic, X-linked, MIM# 300752; Anaemia, sideroblastic, 1, MIM# 300751 for gene: ALAS2
BabyScreen+ newborn screening v1.114 AKT3 Tommy Li Added phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome for gene: AKT3
BabyScreen+ newborn screening v1.114 AKT2 Tommy Li Added phenotypes Severe insulin resistance and diabetes mellitus for gene: AKT2
BabyScreen+ newborn screening v1.114 AKAP9 Tommy Li Added phenotypes Long QT syndrome for gene: AKAP9
BabyScreen+ newborn screening v1.114 AK1 Tommy Li Added phenotypes Hemolytic anemia due to adenylate kinase deficiency for gene: AK1
BabyScreen+ newborn screening v1.114 AIP Tommy Li Added phenotypes Pituitary adenoma predisposition, MIM# 102200 for gene: AIP
BabyScreen+ newborn screening v1.114 AIFM1 Tommy Li Added phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1
BabyScreen+ newborn screening v1.114 AHSP Tommy Li Added phenotypes Thalassaemia for gene: AHSP
BabyScreen+ newborn screening v1.114 AHI1 Tommy Li Added phenotypes Joubert syndrome 3, MIM# 608629 for gene: AHI1
Publications for gene AHI1 were updated from 15322546; 15467982; 16155189 to 15322546; 16155189; 15467982
BabyScreen+ newborn screening v1.114 AGTR1 Tommy Li Added phenotypes Renal tubular dysgenesis for gene: AGTR1
BabyScreen+ newborn screening v1.114 AGT Tommy Li Added phenotypes Renal tubular dysgenesis for gene: AGT
BabyScreen+ newborn screening v1.114 AGPS Tommy Li Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 for gene: AGPS
BabyScreen+ newborn screening v1.114 AGA Tommy Li Added phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 for gene: AGA
BabyScreen+ newborn screening v1.114 ADK Tommy Li Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 for gene: ADK
Publications for gene ADK were updated from 21963049; 17120046; 33309011 to 33309011; 21963049; 17120046
BabyScreen+ newborn screening v1.114 ADGRG1 Tommy Li Added phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 for gene: ADGRG1
BabyScreen+ newborn screening v1.114 ADAMTSL2 Tommy Li Added phenotypes Geleophysic dysplasia 1, MIM# 231050 for gene: ADAMTSL2
BabyScreen+ newborn screening v1.114 ADAMTS2 Tommy Li Added phenotypes Ehlers-Danlos syndrome VIIc for gene: ADAMTS2
BabyScreen+ newborn screening v1.114 ADAM17 Tommy Li Added phenotypes Neonatal inflammatory skin and bowel disease for gene: ADAM17
BabyScreen+ newborn screening v1.114 ACVR2B Tommy Li Added phenotypes Left-right axis malformation for gene: ACVR2B
BabyScreen+ newborn screening v1.114 ACVR1 Tommy Li Added phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 for gene: ACVR1
Publications for gene ACVR1 were updated from 16642017; 29089047; 35384641 to 35384641; 29089047; 16642017
BabyScreen+ newborn screening v1.114 ACTN4 Tommy Li Added phenotypes Glomerulosclerosis, focal segmental, 1, MIM#603278 for gene: ACTN4
BabyScreen+ newborn screening v1.114 ACTN2 Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: ACTN2
BabyScreen+ newborn screening v1.114 ACTN1 Tommy Li Added phenotypes Bleeding disorder, platelet-type, 15, MIM# 615193 for gene: ACTN1
BabyScreen+ newborn screening v1.114 ACTG2 Tommy Li Added phenotypes Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 for gene: ACTG2
BabyScreen+ newborn screening v1.114 ACTG1 Tommy Li Added phenotypes Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717 for gene: ACTG1
BabyScreen+ newborn screening v1.114 ACTC1 Tommy Li Added phenotypes Left ventricular noncompaction; Atrial septal defect; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated for gene: ACTC1
BabyScreen+ newborn screening v1.114 ACTB Tommy Li Added phenotypes Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection for gene: ACTB
BabyScreen+ newborn screening v1.114 ACTA1 Tommy Li Added phenotypes Congenital myopathy with fiber type disproportion; Nemaline myopathy for gene: ACTA1
BabyScreen+ newborn screening v1.114 ACSF3 Tommy Li Added phenotypes Combined malonic and methylmalonic aciduria for gene: ACSF3
Publications for gene ACSF3 were updated from 21841779; 30740739 to 30740739; 21841779
BabyScreen+ newborn screening v1.114 ACOX1 Tommy Li Added phenotypes Mitchell syndrome, MIM# 618960; Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 for gene: ACOX1
Publications for gene ACOX1 were updated from 32169171; 17458872 to 32169171; 17458872
BabyScreen+ newborn screening v1.114 ACO2 Tommy Li Added phenotypes Cerebellar-retinal degeneration, infantile for gene: ACO2
BabyScreen+ newborn screening v1.114 ACE Tommy Li Added phenotypes Renal tubular dysgenesis, MIM# 267430 for gene: ACE
Publications for gene ACE were updated from 16116425; 22095942 to 22095942; 16116425
BabyScreen+ newborn screening v1.114 ACBD5 Tommy Li Added phenotypes Thrombocytopaenia for gene: ACBD5
BabyScreen+ newborn screening v1.114 ACADSB Tommy Li Added phenotypes 2-methylbutyrylglycinuria MIM#610006 for gene: ACADSB
BabyScreen+ newborn screening v1.114 ACADS Tommy Li Added phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 for gene: ACADS
BabyScreen+ newborn screening v1.114 ACADL Tommy Li Added phenotypes Sudden infant death for gene: ACADL
BabyScreen+ newborn screening v1.114 ACAD8 Tommy Li Added phenotypes Isobutyryl-CoA dehydrogenase deficiency MIM#611283 for gene: ACAD8
BabyScreen+ newborn screening v1.114 ABHD12 Tommy Li Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 for gene: ABHD12
BabyScreen+ newborn screening v1.114 ABCC9 Tommy Li Added phenotypes Atrial fibrillation, familial; Hypertrichotic osteochondrodysplasia; Cardiomyopathy, dilated for gene: ABCC9
BabyScreen+ newborn screening v1.114 ABCC2 Tommy Li Added phenotypes Dubin-Johnson syndrome, MIM# 237500 for gene: ABCC2
Publications for gene ABCC2 were updated from 11477083; 30344695 to 30344695; 11477083
BabyScreen+ newborn screening v1.114 ABCB7 Tommy Li Added phenotypes Sideroblastic anaemia and ataxia for gene: ABCB7
BabyScreen+ newborn screening v1.114 ABCB4 Tommy Li Added phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803) for gene: ABCB4
BabyScreen+ newborn screening v1.114 ABCB11 Tommy Li Added phenotypes Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 for gene: ABCB11
BabyScreen+ newborn screening v1.114 ABCA4 Tommy Li Added phenotypes Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718 for gene: ABCA4
BabyScreen+ newborn screening v1.114 ABCA3 Tommy Li Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 for gene: ABCA3
BabyScreen+ newborn screening v1.114 ABCA12 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) for gene: ABCA12
BabyScreen+ newborn screening v1.114 ABAT Tommy Li Added phenotypes GABA-transaminase deficiency for gene: ABAT
BabyScreen+ newborn screening v1.114 AARS2 Tommy Li Added phenotypes Leukoencephalopathy, and ovarian failure in females for gene: AARS2
BabyScreen+ newborn screening v1.114 AARS Tommy Li Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Epileptic encephalopathy, early infantile, 29, MIM# 616339 for gene: AARS
BabyScreen+ newborn screening v1.114 ZBTB24 Tommy Li Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 for gene: ZBTB24
BabyScreen+ newborn screening v1.114 VWF Tommy Li Added phenotypes von Willebrand disease for gene: VWF
BabyScreen+ newborn screening v1.114 VCL Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: VCL
BabyScreen+ newborn screening v1.114 USP18 Tommy Li Added phenotypes Pseudo-TORCH syndrome 2 MIM#617397 for gene: USP18
BabyScreen+ newborn screening v1.114 UNG Tommy Li Added phenotypes Immunodeficiency with hyper IgM, type 5 MIM#608106 for gene: UNG
BabyScreen+ newborn screening v1.114 TTN Tommy Li Added phenotypes Cardiomyopathy, dilated; Centronuclear myopathy for gene: TTN
BabyScreen+ newborn screening v1.114 TRPM4 Tommy Li Added phenotypes Progressive familial heart block, type IB 604559 for gene: TRPM4
BabyScreen+ newborn screening v1.114 TRNT1 Tommy Li Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 for gene: TRNT1
BabyScreen+ newborn screening v1.114 TREX1 Tommy Li Added phenotypes Aicardi-Goutieres syndrome 1 MIM#225750 for gene: TREX1
Publications for gene TREX1 were updated from 20301648; 32877590 to 32877590; 20301648
BabyScreen+ newborn screening v1.114 TRDN Tommy Li Added phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 for gene: TRDN
BabyScreen+ newborn screening v1.114 TPM1 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic for gene: TPM1
BabyScreen+ newborn screening v1.114 TOP2B Tommy Li Added phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 for gene: TOP2B
BabyScreen+ newborn screening v1.114 TNNT2 Tommy Li Added phenotypes Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated for gene: TNNT2
BabyScreen+ newborn screening v1.114 TNNI3 Tommy Li Added phenotypes Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated for gene: TNNI3
BabyScreen+ newborn screening v1.114 TNNC1 Tommy Li Added phenotypes Cardiomyopathy, dilated for gene: TNNC1
BabyScreen+ newborn screening v1.114 TNFSF11 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 2 MIM#259710 for gene: TNFSF11
Publications for gene TNFSF11 were updated from 17632511; 36031188; 32940787 to 17632511; 32940787; 36031188
BabyScreen+ newborn screening v1.114 TNFRSF11B Tommy Li Added phenotypes Paget disease of bone 5, juvenile-onset MIM#239000 for gene: TNFRSF11B
Publications for gene TNFRSF11B were updated from 25108083; 34166796; 29080812 to 34166796; 25108083; 29080812
BabyScreen+ newborn screening v1.114 TMEM165 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIk MIM#614727 for gene: TMEM165
BabyScreen+ newborn screening v1.114 TINF2 Tommy Li Added phenotypes Dyskeratosis congenita for gene: TINF2
BabyScreen+ newborn screening v1.114 TERT Tommy Li Added phenotypes Dyskeratosis congenita for gene: TERT
BabyScreen+ newborn screening v1.114 TERC Tommy Li Added phenotypes Dyskeratosis congenita for gene: TERC
BabyScreen+ newborn screening v1.114 TECRL Tommy Li Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 for gene: TECRL
BabyScreen+ newborn screening v1.114 SUOX Tommy Li Added phenotypes Sulfite oxidase deficiency, MIM# 272300 for gene: SUOX
BabyScreen+ newborn screening v1.114 STRC Tommy Li Added phenotypes Deafness, autosomal recessive 16, MIM# 603720 for gene: STRC
BabyScreen+ newborn screening v1.114 STK11 Tommy Li Added phenotypes Peutz-Jeghers syndrome, MIM# 175200 for gene: STK11
BabyScreen+ newborn screening v1.114 SPTLC1 Tommy Li Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 for gene: SPTLC1
BabyScreen+ newborn screening v1.114 SP7 Tommy Li Added phenotypes Osteogenesis imperfecta, type XII, MIM# 613849 for gene: SP7
BabyScreen+ newborn screening v1.114 SOX3 Tommy Li Added phenotypes Panhypopituitarism, X-linked MIM#312000 for gene: SOX3
BabyScreen+ newborn screening v1.114 SNTA1 Tommy Li Added phenotypes Long QT syndrome for gene: SNTA1
BabyScreen+ newborn screening v1.114 SMARCAL1 Tommy Li Added phenotypes Schimke immune-osseous dysplasia MIM# 242900 for gene: SMARCAL1
BabyScreen+ newborn screening v1.114 SLC9A3 Tommy Li Added phenotypes Diarrhoea 8, secretory sodium, congenital, MiM# 616868 for gene: SLC9A3
BabyScreen+ newborn screening v1.114 SLC6A8 Tommy Li Added phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 for gene: SLC6A8
BabyScreen+ newborn screening v1.114 SLC6A5 Tommy Li Added phenotypes Hyperekplexia 3, MIM#614618 for gene: SLC6A5
BabyScreen+ newborn screening v1.114 SLC39A14 Tommy Li Added phenotypes Hypermanganesemia with dystonia 2, MIM# 617013 for gene: SLC39A14
BabyScreen+ newborn screening v1.114 SLC35C1 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 for gene: SLC35C1
BabyScreen+ newborn screening v1.114 SLC25A1 Tommy Li Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 for gene: SLC25A1
BabyScreen+ newborn screening v1.114 SLC16A2 Tommy Li Added phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 for gene: SLC16A2
BabyScreen+ newborn screening v1.114 SLC16A1 Tommy Li Added phenotypes Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency for gene: SLC16A1
BabyScreen+ newborn screening v1.114 SGSH Tommy Li Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 for gene: SGSH
BabyScreen+ newborn screening v1.114 SDHC Tommy Li Added phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes for gene: SDHC
BabyScreen+ newborn screening v1.114 SDHB Tommy Li Added phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes for gene: SDHB
BabyScreen+ newborn screening v1.114 SDHAF2 Tommy Li Added phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes for gene: SDHAF2
BabyScreen+ newborn screening v1.114 SCN5A Tommy Li Added phenotypes Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144 for gene: SCN5A
BabyScreen+ newborn screening v1.114 SAMHD1 Tommy Li Added phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 for gene: SAMHD1
BabyScreen+ newborn screening v1.114 RNASEH2C Tommy Li Added phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 for gene: RNASEH2C
BabyScreen+ newborn screening v1.114 RNASEH2B Tommy Li Added phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 for gene: RNASEH2B
BabyScreen+ newborn screening v1.114 RNASEH2A Tommy Li Added phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 for gene: RNASEH2A
BabyScreen+ newborn screening v1.114 RBM20 Tommy Li Added phenotypes Cardiomyopathy, dilated, 1DD for gene: RBM20
BabyScreen+ newborn screening v1.114 PSPH Tommy Li Added phenotypes Phosphoserine phosphatase deficiency, MIM# 614023 for gene: PSPH
BabyScreen+ newborn screening v1.114 PRKG1 Tommy Li Added phenotypes Aortic aneurysm, familial thoracic 8, MIM#615436 for gene: PRKG1
BabyScreen+ newborn screening v1.114 PMS2 Tommy Li Added phenotypes Mismatch repair cancer syndrome 4, MIM# 619101 for gene: PMS2
BabyScreen+ newborn screening v1.114 PKP2 Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 for gene: PKP2
BabyScreen+ newborn screening v1.114 PKD2 Tommy Li Added phenotypes Polycystic kidney disease 2, MIM# 613095 for gene: PKD2
BabyScreen+ newborn screening v1.114 PKD1 Tommy Li Added phenotypes Polycystic kidney disease 1, MIM# 173900 for gene: PKD1
BabyScreen+ newborn screening v1.114 NLRP3 Tommy Li Added phenotypes Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 for gene: NLRP3
BabyScreen+ newborn screening v1.114 NCF1 Tommy Li Added phenotypes Chronic granulomatous disease, MIM#233700 for gene: NCF1
BabyScreen+ newborn screening v1.114 NAXD Tommy Li Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 for gene: NAXD
Publications for gene NAXD were updated from 30576410; 31755961; 32462209; 35231119 to 30576410; 32462209; 31755961; 35231119
BabyScreen+ newborn screening v1.114 MYLK Tommy Li Added phenotypes Aortic aneurysm, familial thoracic 7 for gene: MYLK
BabyScreen+ newborn screening v1.114 MYL3 Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic, 8 for gene: MYL3
BabyScreen+ newborn screening v1.114 MYL2 Tommy Li Added phenotypes Cardiomyopathy, familial hypertrophic, 10 for gene: MYL2
BabyScreen+ newborn screening v1.114 MYH11 Tommy Li Added phenotypes Aortic aneurysm, familial thoracic 4, MIM#160745 for gene: MYH11
BabyScreen+ newborn screening v1.114 MEN1 Tommy Li Added phenotypes Multiple endocrine neoplasia 1, MIM#131100 for gene: MEN1
BabyScreen+ newborn screening v1.114 MCFD2 Tommy Li Added phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 for gene: MCFD2
BabyScreen+ newborn screening v1.114 LOX Tommy Li Added phenotypes Aortic aneurysm, familial thoracic 10, MIM#617168 for gene: LOX
BabyScreen+ newborn screening v1.114 LMNA Tommy Li Added phenotypes Dilated cardiomyopathy; Emery-Dreifuss muscular dystrophy 2; Charcot-Marie-Tooth disease for gene: LMNA
BabyScreen+ newborn screening v1.114 LAMP2 Tommy Li Added phenotypes Danon disease, MIM# 300257 for gene: LAMP2
BabyScreen+ newborn screening v1.114 KRIT1 Tommy Li Added phenotypes Cerebral cavernous malformations-1 MIM# 116860 for gene: KRIT1
BabyScreen+ newborn screening v1.114 KCNE2 Tommy Li Added phenotypes Long QT syndrome-6 for gene: KCNE2
BabyScreen+ newborn screening v1.114 KCNE1 Tommy Li Added phenotypes Long QT syndrome-5; Jervell and Lange-Nielsen syndrome for gene: KCNE1
BabyScreen+ newborn screening v1.114 JUP Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214 for gene: JUP
BabyScreen+ newborn screening v1.114 IKBKG Tommy Li Added phenotypes Immunodeficiency 33 (300636) for gene: IKBKG
BabyScreen+ newborn screening v1.114 IFNGR2 Tommy Li Added phenotypes Immunodeficiency 28, mycobacteriosis, MIM# 614889 for gene: IFNGR2
BabyScreen+ newborn screening v1.114 IFNGR1 Tommy Li Added phenotypes Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978; Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 for gene: IFNGR1
BabyScreen+ newborn screening v1.114 IARS Tommy Li Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 for gene: IARS
Publications for gene IARS were updated from 27426735; 34194004 to 34194004; 27426735
BabyScreen+ newborn screening v1.114 HNF4A Tommy Li Added phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; MODY, type I, OMIM # 125850; Hypoglycaemia, hyperinsulinaemic, MIM#125850 for gene: HNF4A
BabyScreen+ newborn screening v1.114 HNF1A Tommy Li Added phenotypes MODY, type III , MIM#600496 for gene: HNF1A
BabyScreen+ newborn screening v1.114 HMGCS2 Tommy Li Added phenotypes HMG-CoA synthase-2 deficiency MIM#605911 for gene: HMGCS2
BabyScreen+ newborn screening v1.114 HGD Tommy Li Added phenotypes Alkaptonuria MIM#203500 for gene: HGD
Publications for gene HGD were updated from 34344451; 12501223 to 12501223; 34344451
BabyScreen+ newborn screening v1.114 HBA2 Tommy Li Added phenotypes Thalassemia, alpha, MIM#604131 for gene: HBA2
BabyScreen+ newborn screening v1.114 HBA1 Tommy Li Added phenotypes Thalassaemia alpha, MIM#604131 for gene: HBA1
BabyScreen+ newborn screening v1.114 GPD1L Tommy Li Added phenotypes Brugada syndrome for gene: GPD1L
BabyScreen+ newborn screening v1.114 GNE Tommy Li Added phenotypes Nonaka myopathy, MIM# 605820 for gene: GNE
BabyScreen+ newborn screening v1.114 GLDC Tommy Li Added phenotypes Glycine encephalopathy, MIM# 605899 for gene: GLDC
Publications for gene GLDC were updated from 16404748; 34513771; 35683414 to 34513771; 16404748; 35683414
BabyScreen+ newborn screening v1.114 GJA5 Tommy Li Added phenotypes Atrial fibrillation for gene: GJA5
BabyScreen+ newborn screening v1.114 GFAP Tommy Li Added phenotypes Alexander disease, MIM#203450 for gene: GFAP
BabyScreen+ newborn screening v1.114 F8 Tommy Li Added phenotypes Haemophilia A, MIM#306700 for gene: F8
BabyScreen+ newborn screening v1.114 ERCC6L2 Tommy Li Added phenotypes Bone marrow failure syndrome 2, MIM# 615715 for gene: ERCC6L2
BabyScreen+ newborn screening v1.114 DSP Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 for gene: DSP
BabyScreen+ newborn screening v1.114 DSG2 Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 for gene: DSG2
BabyScreen+ newborn screening v1.114 DSC2 Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 for gene: DSC2
BabyScreen+ newborn screening v1.114 DMD Tommy Li Added phenotypes Duchenne muscular dystrophy MIM#310200 for gene: DMD
Publications for gene DMD were updated from 36278620; 36152336; 35562557; 35307847 to 35562557; 36152336; 35307847; 36278620
BabyScreen+ newborn screening v1.114 DES Tommy Li Added phenotypes Myopathy, myofibrillar; Cardiomyopathy, dilated for gene: DES
BabyScreen+ newborn screening v1.114 CRYAB Tommy Li Added phenotypes Myofibrillar myopathy; Cardiomyopathy, dilated for gene: CRYAB
BabyScreen+ newborn screening v1.114 CP Tommy Li Added phenotypes Aceruloplasminaemia, MIM#604290 for gene: CP
BabyScreen+ newborn screening v1.114 COQ7 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 8, MIM# 616733 for gene: COQ7
BabyScreen+ newborn screening v1.114 COL3A1 Tommy Li Added phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 for gene: COL3A1
BabyScreen+ newborn screening v1.114 CLN6 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 for gene: CLN6
BabyScreen+ newborn screening v1.114 CLN5 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745 for gene: CLN5
BabyScreen+ newborn screening v1.114 CLN3 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 for gene: CLN3
BabyScreen+ newborn screening v1.114 CASQ2 Tommy Li Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 for gene: CASQ2
BabyScreen+ newborn screening v1.114 CALM2 Tommy Li Added phenotypes Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 for gene: CALM2
BabyScreen+ newborn screening v1.114 CALM1 Tommy Li Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916 for gene: CALM1
BabyScreen+ newborn screening v1.114 CACNA1C Tommy Li Added phenotypes Brugada syndrome; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 for gene: CACNA1C
BabyScreen+ newborn screening v1.114 AP3D1 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 for gene: AP3D1
Publications for gene AP3D1 were updated from 26744459; 9697856; 30472485; 36445457 to 30472485; 9697856; 36445457; 26744459
BabyScreen+ newborn screening v1.114 AP1B1 Tommy Li Added phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150 for gene: AP1B1
BabyScreen+ newborn screening v1.114 AMT Tommy Li Added phenotypes Glycine encephalopathy MIM#605899 for gene: AMT
BabyScreen+ newborn screening v1.114 AGPAT2 Tommy Li Added phenotypes Lipodystrophy, congenital generalized, type 1, MIM# 608594 for gene: AGPAT2
BabyScreen+ newborn screening v1.114 ADAR Tommy Li Added phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 for gene: ADAR
BabyScreen+ newborn screening v1.114 ZAP70 Tommy Li Added phenotypes Immunodeficiency MIM#176947 for gene: ZAP70
BabyScreen+ newborn screening v1.114 XPC Tommy Li Added phenotypes Xeroderma pigmentosum, group C MIM#278720 for gene: XPC
BabyScreen+ newborn screening v1.114 XPA Tommy Li Added phenotypes Xeroderma pigmentosum, group A MIM#278700 for gene: XPA
BabyScreen+ newborn screening v1.114 XIAP Tommy Li Added phenotypes Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 for gene: XIAP
Publications for gene XIAP were updated from 22228567; 20489057; 17080092; 24942515; 25943627 to 20489057; 17080092; 24942515; 25943627; 22228567
BabyScreen+ newborn screening v1.114 WT1 Tommy Li Added phenotypes Wilms tumor, type 1, MIM#194070 for gene: WT1
BabyScreen+ newborn screening v1.114 WNK4 Tommy Li Added phenotypes Pseudohypoaldosteronism, type IIB MIM#614491 for gene: WNK4
BabyScreen+ newborn screening v1.114 WNK1 Tommy Li Added phenotypes Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 for gene: WNK1
BabyScreen+ newborn screening v1.114 WIPF1 Tommy Li Added phenotypes Wiskott-Aldrich syndrome 2 MIM#614493 for gene: WIPF1
BabyScreen+ newborn screening v1.114 WHRN Tommy Li Added phenotypes Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084 for gene: WHRN
Publications for gene WHRN were updated from 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658 to 12833159; 17171570; 21738389; 15841483; 22147658; 27117407; 28254438; 20502675; 26338283; 29270100
BabyScreen+ newborn screening v1.114 WDR72 Tommy Li Added phenotypes Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA MONDO:0015827 for gene: WDR72
BabyScreen+ newborn screening v1.114 WDR1 Tommy Li Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 for gene: WDR1
BabyScreen+ newborn screening v1.114 WAS Tommy Li Added phenotypes Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000; Neutropenia, severe congenital, X-linked , MIM#300299 for gene: WAS
BabyScreen+ newborn screening v1.114 VPS45 Tommy Li Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 for gene: VPS45
Publications for gene VPS45 were updated from 30294941; 32037586; 23738510 to 23738510; 30294941; 32037586
BabyScreen+ newborn screening v1.114 VKORC1 Tommy Li Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473 for gene: VKORC1
BabyScreen+ newborn screening v1.114 VHL Tommy Li Added phenotypes von Hippel-Lindau syndrome MIM#193300 for gene: VHL
Publications for gene VHL were updated from 20301636; 33945366; 34613603; 28620007 to 33945366; 34613603; 20301636; 28620007
BabyScreen+ newborn screening v1.114 VDR Tommy Li Added phenotypes Rickets, vitamin D-resistant, type IIA MIM#277440 for gene: VDR
Publications for gene VDR were updated from 32596195; 31926093; 32049653 to 32049653; 31926093; 32596195
BabyScreen+ newborn screening v1.114 VAMP1 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 for gene: VAMP1
Publications for gene VAMP1 were updated from 28168212; 28253535; 28600779; 17102983 to 28600779; 28168212; 17102983; 28253535
BabyScreen+ newborn screening v1.114 USH2A Tommy Li Added phenotypes Usher Syndrome Type II MIM#276901 for gene: USH2A
Publications for gene USH2A were updated from 20301515; 36041150; 34331125 to 34331125; 36041150; 20301515
BabyScreen+ newborn screening v1.114 USH1G Tommy Li Added phenotypes Usher syndrome type 1 MIM#606943 for gene: USH1G
BabyScreen+ newborn screening v1.114 USH1C Tommy Li Added phenotypes Usher syndrome type 1 MIM#276904 for gene: USH1C
BabyScreen+ newborn screening v1.114 UROS Tommy Li Added phenotypes Porphyria, congenital erythropoietic MIM#263700 for gene: UROS
BabyScreen+ newborn screening v1.114 UNC13D Tommy Li Added phenotypes Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 for gene: UNC13D
BabyScreen+ newborn screening v1.114 UMPS Tommy Li Added phenotypes Orotic aciduria MIM#258900 for gene: UMPS
BabyScreen+ newborn screening v1.114 UGT1A1 Tommy Li Added phenotypes Crigler-Najjar syndrome, type I, MIM# 218800 for gene: UGT1A1
BabyScreen+ newborn screening v1.114 UBE2T Tommy Li Added phenotypes Fanconi anaemia, complementation group T, MIM# 616435 for gene: UBE2T
Publications for gene UBE2T were updated from 32646888; 26119737; 26046368; 26085575 to 26046368; 32646888; 26119737; 26085575
BabyScreen+ newborn screening v1.114 TUBB1 Tommy Li Added phenotypes Congenital hypothyroidism, MONDO:0018612, TUBB1-related; Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 for gene: TUBB1
BabyScreen+ newborn screening v1.114 TTPA Tommy Li Added phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 for gene: TTPA
Publications for gene TTPA were updated from 20301419; 25614784; 20464573; 16491382 to 25614784; 20301419; 16491382; 20464573
BabyScreen+ newborn screening v1.114 TSHR Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 for gene: TSHR
Publications for gene TSHR were updated from 8981017; 20515734 to 20515734; 8981017
BabyScreen+ newborn screening v1.114 TSHB Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous 4, MIM#275100 for gene: TSHB
Publications for gene TSHB were updated from 31166470; 35102753; 31384098 to 31166470; 31384098; 35102753
BabyScreen+ newborn screening v1.114 TRPM6 Tommy Li Added phenotypes Hypomagnesemia 1, intestinal MIM#602014 for gene: TRPM6
BabyScreen+ newborn screening v1.114 TRMU Tommy Li Added phenotypes Liver failure, transient infantile MIM# 613070 for gene: TRMU
Publications for gene TRMU were updated from 19732863; 36305855 to 36305855; 19732863
BabyScreen+ newborn screening v1.114 TRIOBP Tommy Li Added phenotypes Deafness, autosomal recessive 28, MIM#609823 for gene: TRIOBP
Publications for gene TRIOBP were updated from 16385457; 16385458 to 16385458; 16385457
BabyScreen+ newborn screening v1.114 TRIM28 Tommy Li Added phenotypes Wilms tumour, MONDO:0006058, TRIM28-related for gene: TRIM28
BabyScreen+ newborn screening v1.114 TRHR Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 for gene: TRHR
Publications for gene TRHR were updated from 9141550; 19213692; 26735259; 28419241; 32319661 to 32319661; 9141550; 28419241; 19213692; 26735259
BabyScreen+ newborn screening v1.114 TPRN Tommy Li Added phenotypes Deafness, autosomal recessive 79, MIM# 613307 for gene: TPRN
BabyScreen+ newborn screening v1.114 TPP1 Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) for gene: TPP1
Publications for gene TPP1 were updated from 32684372; 31884868; 30470609; 33882967 to 31884868; 33882967; 32684372; 30470609
BabyScreen+ newborn screening v1.114 TPO Tommy Li Added phenotypes Thyroid dyshormonogenesis 2A MIM#274500 for gene: TPO
BabyScreen+ newborn screening v1.114 TPK1 Tommy Li Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 for gene: TPK1
BabyScreen+ newborn screening v1.114 TP53 Tommy Li Added phenotypes Li-Fraumeni syndrome MIM#151623 for gene: TP53
BabyScreen+ newborn screening v1.114 TNFRSF11A Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 for gene: TNFRSF11A
Publications for gene TNFRSF11A were updated from 36031188; 35812760 to 35812760; 36031188
BabyScreen+ newborn screening v1.114 TMPRSS3 Tommy Li Added phenotypes deafness, autosomal recessive MIM#601072 for gene: TMPRSS3
BabyScreen+ newborn screening v1.114 TMIE Tommy Li Added phenotypes Deafness, autosomal recessive 6 MIM#600971 for gene: TMIE
BabyScreen+ newborn screening v1.114 TMEM38B Tommy Li Added phenotypes Osteogenesis imperfecta, type XIV , MIM#615066 for gene: TMEM38B
Publications for gene TMEM38B were updated from 23054245; 28323974 to 28323974; 23054245
BabyScreen+ newborn screening v1.114 TMC1 Tommy Li Added phenotypes Deafness, autosomal recessive 7 MIM#600974 for gene: TMC1
Publications for gene TMC1 were updated from 11850618; 26879195 to 26879195; 11850618
BabyScreen+ newborn screening v1.114 TK2 Tommy Li Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 for gene: TK2
Publications for gene TK2 were updated from 23230576; 29602790; 31125140; 23385875 to 31125140; 23385875; 23230576; 29602790
BabyScreen+ newborn screening v1.114 THRA Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 for gene: THRA
Publications for gene THRA were updated from 33272083; 32349464 to 32349464; 33272083
BabyScreen+ newborn screening v1.114 TH Tommy Li Added phenotypes Tyrosine hydroxylase deficiency, MIM#605407 for gene: TH
BabyScreen+ newborn screening v1.114 TGFBR2 Tommy Li Added phenotypes Loeys-Dietz syndrome 2, MIM# 610168 for gene: TGFBR2
BabyScreen+ newborn screening v1.114 TGFBR1 Tommy Li Added phenotypes Loeys-Dietz syndrome 1, MIM# 609192 for gene: TGFBR1
BabyScreen+ newborn screening v1.114 TGFB3 Tommy Li Added phenotypes Loeys-Dietz syndrome 5 , MIM#615582 for gene: TGFB3
BabyScreen+ newborn screening v1.114 TGFB2 Tommy Li Added phenotypes Loeys-Dietz syndrome 4, MIM# 614816 for gene: TGFB2
BabyScreen+ newborn screening v1.114 TG Tommy Li Added phenotypes Thyroid dyshormonogenesis 3, MIM# 274700 for gene: TG
BabyScreen+ newborn screening v1.114 TF Tommy Li Added phenotypes Atransferrinemia MIM#209300 for gene: TF
BabyScreen+ newborn screening v1.114 TECTA Tommy Li Added phenotypes Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543 for gene: TECTA
BabyScreen+ newborn screening v1.114 TCN2 Tommy Li Added phenotypes Transcobalamin II deficiency MIM# 275350 for gene: TCN2
Publications for gene TCN2 were updated from 32841161; 33685478 to 33685478; 32841161
BabyScreen+ newborn screening v1.114 TCIRG1 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 1, MIM# 259700 for gene: TCIRG1
BabyScreen+ newborn screening v1.114 TCF3 Tommy Li Added phenotypes Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 for gene: TCF3
BabyScreen+ newborn screening v1.114 TBX19 Tommy Li Added phenotypes Adrenocorticotropic hormone deficiency, MIM#201400 for gene: TBX19
BabyScreen+ newborn screening v1.114 TBL1X Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 for gene: TBL1X
BabyScreen+ newborn screening v1.114 TAT Tommy Li Added phenotypes Tyrosinemia, type II, MIM#276600 for gene: TAT
BabyScreen+ newborn screening v1.114 TANGO2 Tommy Li Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 for gene: TANGO2
BabyScreen+ newborn screening v1.114 SYT2 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 for gene: SYT2
BabyScreen+ newborn screening v1.114 STXBP2 Tommy Li Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 for gene: STXBP2
BabyScreen+ newborn screening v1.114 STX16 Tommy Li Added phenotypes Pseudohypoparathyroidism, type IB MIM#603233 for gene: STX16
BabyScreen+ newborn screening v1.114 STX11 Tommy Li Added phenotypes Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 for gene: STX11
BabyScreen+ newborn screening v1.114 STK4 Tommy Li Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 for gene: STK4
BabyScreen+ newborn screening v1.114 STIM1 Tommy Li Added phenotypes Immunodeficiency 10 MIM612783 for gene: STIM1
BabyScreen+ newborn screening v1.114 STAT3 Tommy Li Added phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 for gene: STAT3
BabyScreen+ newborn screening v1.114 STAT1 Tommy Li Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796 for gene: STAT1
BabyScreen+ newborn screening v1.114 STAR Tommy Li Added phenotypes Congenital lipoid adrenal hyperplasia, MIM#201710 for gene: STAR
BabyScreen+ newborn screening v1.114 SRP54 Tommy Li Added phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 for gene: SRP54
BabyScreen+ newborn screening v1.114 SPR Tommy Li Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 for gene: SPR
BabyScreen+ newborn screening v1.114 SP110 Tommy Li Added phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 for gene: SP110
BabyScreen+ newborn screening v1.114 SNX10 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 8 MIM#615085 for gene: SNX10
BabyScreen+ newborn screening v1.114 SMPD1 Tommy Li Added phenotypes Niemann-Pick disease, type B, MIM# 607616; Niemann-Pick disease, type A, MIM# 257200 for gene: SMPD1
BabyScreen+ newborn screening v1.114 SMN1 Tommy Li Added phenotypes Spinal muscular atrophy type 1, MIM#253300 for gene: SMN1
BabyScreen+ newborn screening v1.114 SMARCD2 Tommy Li Added phenotypes Specific granule deficiency 2 MIM#617475 for gene: SMARCD2
BabyScreen+ newborn screening v1.114 SMAD3 Tommy Li Added phenotypes Loeys-Dietz syndrome 3, MIM# 613795 for gene: SMAD3
BabyScreen+ newborn screening v1.114 SMAD2 Tommy Li Added phenotypes Loeys-Dietz syndrome 6, MIM# 619656 for gene: SMAD2
BabyScreen+ newborn screening v1.114 SLX4 Tommy Li Added phenotypes Fanconi anaemia, complementation group P, MIM# 613951 for gene: SLX4
BabyScreen+ newborn screening v1.114 SLITRK6 Tommy Li Added phenotypes Deafness and myopia MIM#221200 for gene: SLITRK6
BabyScreen+ newborn screening v1.114 SLC7A7 Tommy Li Added phenotypes Lysinuric protein intolerance, MIM# 222700 for gene: SLC7A7
BabyScreen+ newborn screening v1.114 SLC5A7 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 for gene: SLC5A7
BabyScreen+ newborn screening v1.114 SLC5A6 Tommy Li Added phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 for gene: SLC5A6
BabyScreen+ newborn screening v1.114 SLC5A5 Tommy Li Added phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 for gene: SLC5A5
BabyScreen+ newborn screening v1.114 SLC5A1 Tommy Li Added phenotypes Glucose/galactose malabsorption, MIM# 606824 for gene: SLC5A1
BabyScreen+ newborn screening v1.114 SLC52A3 Tommy Li Added phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 for gene: SLC52A3
BabyScreen+ newborn screening v1.114 SLC52A2 Tommy Li Added phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 for gene: SLC52A2
BabyScreen+ newborn screening v1.114 SLC4A1 Tommy Li Added phenotypes Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 for gene: SLC4A1
BabyScreen+ newborn screening v1.114 SLC46A1 Tommy Li Added phenotypes Folate malabsorption, hereditary, MIM# 229050 for gene: SLC46A1
BabyScreen+ newborn screening v1.114 SLC39A8 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 for gene: SLC39A8
BabyScreen+ newborn screening v1.114 SLC39A7 Tommy Li Added phenotypes Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 for gene: SLC39A7
BabyScreen+ newborn screening v1.114 SLC39A4 Tommy Li Added phenotypes Acrodermatitis enteropathica, MIM# 201100 for gene: SLC39A4
BabyScreen+ newborn screening v1.114 SLC37A4 Tommy Li Added phenotypes Glycogen storage disease Ic, MIM# 232240; Glycogen storage disease Ib, MIM# 232220; Congenital disorder of glycosylation, type IIw, MIM# 619525 for gene: SLC37A4
BabyScreen+ newborn screening v1.114 SLC35A2 Tommy Li Added phenotypes Congenital disorder of glycosylation, type IIm, MIM #300896 for gene: SLC35A2
BabyScreen+ newborn screening v1.114 SLC34A3 Tommy Li Added phenotypes Hypophosphatemic rickets with hypercalciuria, MIM#241530 for gene: SLC34A3
BabyScreen+ newborn screening v1.114 SLC30A10 Tommy Li Added phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 for gene: SLC30A10
BabyScreen+ newborn screening v1.114 SLC2A1 Tommy Li Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
BabyScreen+ newborn screening v1.114 SLC26A7 Tommy Li Added phenotypes Congenital hypothyroidism, MONDO:0018612, SLC26A7-related for gene: SLC26A7
Publications for gene SLC26A7 were updated from 34780050; 32486989; 31372509; 30333321 to 34780050; 31372509; 30333321; 32486989
BabyScreen+ newborn screening v1.114 SLC26A4 Tommy Li Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600 for gene: SLC26A4
BabyScreen+ newborn screening v1.114 SLC26A3 Tommy Li Added phenotypes Diarrhoea 1, secretory chloride, congenital, MIM# 214700 for gene: SLC26A3
BabyScreen+ newborn screening v1.114 SLC25A38 Tommy Li Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 for gene: SLC25A38
BabyScreen+ newborn screening v1.114 SLC25A20 Tommy Li Added phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138 for gene: SLC25A20
Publications for gene SLC25A20 were updated from 33085788; 32885845 to 32885845; 33085788
BabyScreen+ newborn screening v1.114 SLC25A19 Tommy Li Added phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 for gene: SLC25A19
BabyScreen+ newborn screening v1.114 SLC25A15 Tommy Li Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 for gene: SLC25A15
BabyScreen+ newborn screening v1.114 SLC25A13 Tommy Li Added phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 for gene: SLC25A13
BabyScreen+ newborn screening v1.114 SLC22A5 Tommy Li Added phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 for gene: SLC22A5
BabyScreen+ newborn screening v1.114 SLC19A3 Tommy Li Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 for gene: SLC19A3
BabyScreen+ newborn screening v1.114 SLC19A2 Tommy Li Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 for gene: SLC19A2
BabyScreen+ newborn screening v1.114 SLC18A3 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239 for gene: SLC18A3
BabyScreen+ newborn screening v1.114 SLC18A2 Tommy Li Added phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 for gene: SLC18A2
BabyScreen+ newborn screening v1.114 SLC12A1 Tommy Li Added phenotypes Bartter syndrome, type 1, MIM# 601678 for gene: SLC12A1
BabyScreen+ newborn screening v1.114 SI Tommy Li Added phenotypes Sucrase-isomaltase deficiency, congenital, MIM# 222900 for gene: SI
BabyScreen+ newborn screening v1.114 SH2D1A Tommy Li Added phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 for gene: SH2D1A
BabyScreen+ newborn screening v1.114 SGPL1 Tommy Li Added phenotypes Nephrotic syndrome, type 14 MIM#617575 for gene: SGPL1
BabyScreen+ newborn screening v1.114 SERPINH1 Tommy Li Added phenotypes Osteogenesis imperfecta, type X, MIM# 613848 for gene: SERPINH1
BabyScreen+ newborn screening v1.114 SERPINF1 Tommy Li Added phenotypes Osteogenesis imperfecta, type VI, MIM# 613982 for gene: SERPINF1
BabyScreen+ newborn screening v1.114 SCNN1G Tommy Li Added phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 for gene: SCNN1G
BabyScreen+ newborn screening v1.114 SCNN1B Tommy Li Added phenotypes Pseudohypoaldosteronism, type I MIM# 264350 for gene: SCNN1B
BabyScreen+ newborn screening v1.114 SCNN1A Tommy Li Added phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 for gene: SCNN1A
BabyScreen+ newborn screening v1.114 SBDS Tommy Li Added phenotypes Shwachman-Diamond syndrome, MIM# 260400 for gene: SBDS
BabyScreen+ newborn screening v1.114 SAR1B Tommy Li Added phenotypes Chylomicron retention disease, MIM# 246700 for gene: SAR1B
BabyScreen+ newborn screening v1.114 SAMD9L Tommy Li Added phenotypes Ataxia-pancytopenia syndrome, MIM# 159550 for gene: SAMD9L
BabyScreen+ newborn screening v1.114 SAMD9 Tommy Li Added phenotypes MIRAGE syndrome, MIM# 617053 for gene: SAMD9
BabyScreen+ newborn screening v1.114 S1PR2 Tommy Li Added phenotypes Deafness, autosomal recessive 68, MIM# 610419 for gene: S1PR2
BabyScreen+ newborn screening v1.114 RYR2 Tommy Li Added phenotypes Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic for gene: RYR2
BabyScreen+ newborn screening v1.114 RYR1 Tommy Li Added phenotypes {Malignant hyperthermia susceptibility 1} MIM#145600 for gene: RYR1
BabyScreen+ newborn screening v1.114 RUNX1 Tommy Li Added phenotypes Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 for gene: RUNX1
BabyScreen+ newborn screening v1.114 RPS7 Tommy Li Added phenotypes Diamond-Blackfan anaemia 8, MIM# 612563 for gene: RPS7
Publications for gene RPS7 were updated from 19061985; 23718193; 27882484; 32772263 to 27882484; 19061985; 23718193; 32772263
BabyScreen+ newborn screening v1.114 RPS26 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MM#613309 for gene: RPS26
BabyScreen+ newborn screening v1.114 RPS24 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MIM#610629 for gene: RPS24
BabyScreen+ newborn screening v1.114 RPS19 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MIM#105650 for gene: RPS19
BabyScreen+ newborn screening v1.114 RPS17 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MIM#612527 for gene: RPS17
BabyScreen+ newborn screening v1.114 RPS10 Tommy Li Added phenotypes Diamond-Blackfan anaemia 9, MIM# 613308 for gene: RPS10
BabyScreen+ newborn screening v1.114 RPL5 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MIM#612561 for gene: RPL5
BabyScreen+ newborn screening v1.114 RPL35A Tommy Li Added phenotypes Diamond-Blackfan anaemia 5, MIM# 612528 for gene: RPL35A
Publications for gene RPL35A were updated from 18535205; 32241839 to 32241839; 18535205
BabyScreen+ newborn screening v1.114 RPL15 Tommy Li Added phenotypes Diamond-Blackfan anaemia 12 , MIM# 615550 for gene: RPL15
BabyScreen+ newborn screening v1.114 RPL11 Tommy Li Added phenotypes Diamond-Blackfan anaemia, MIM#612562 for gene: RPL11
BabyScreen+ newborn screening v1.114 RPE65 Tommy Li Added phenotypes Retinitis pigmentosa 20 MIM#613794; Leber congenital amaurosis 2 MIM#204100 for gene: RPE65
BabyScreen+ newborn screening v1.114 RNPC3 Tommy Li Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 for gene: RNPC3
Publications for gene RNPC3 were updated from 29866761; 32462814; 33650182 to 33650182; 29866761; 32462814
BabyScreen+ newborn screening v1.114 RMRP Tommy Li Added phenotypes Cartilage-hair hypoplasia MIM#250250 for gene: RMRP
BabyScreen+ newborn screening v1.114 RFXAP Tommy Li Added phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 for gene: RFXAP
BabyScreen+ newborn screening v1.114 RFXANK Tommy Li Added phenotypes MHC class II deficiency, complementation group B , MIM#209920 for gene: RFXANK
BabyScreen+ newborn screening v1.114 RFX5 Tommy Li Added phenotypes Bare lymphocyte syndrome, type II, complementation group E MIM# 209920; Bare lymphocyte syndrome, type II, complementation group C MIM# 209920 for gene: RFX5
BabyScreen+ newborn screening v1.114 RET Tommy Li Added phenotypes Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB for gene: RET
BabyScreen+ newborn screening v1.114 REST Tommy Li Added phenotypes {Wilms tumor 6, susceptibility to}, MIM# 616806 for gene: REST
Publications for gene REST were updated from 26551668; 34308104 to 34308104; 26551668
BabyScreen+ newborn screening v1.114 RDX Tommy Li Added phenotypes Deafness, autosomal recessive 24, MIM# 611022 for gene: RDX
Publications for gene RDX were updated from 19215054; 22567349; 15314067; 26226137; 17226784 to 22567349; 15314067; 19215054; 17226784; 26226137
BabyScreen+ newborn screening v1.114 RB1 Tommy Li Added phenotypes Retinoblastoma, MIM# 180200 for gene: RB1
BabyScreen+ newborn screening v1.114 RASGRP1 Tommy Li Added phenotypes Immunodeficiency 64 (MIM#618534) for gene: RASGRP1
BabyScreen+ newborn screening v1.114 RAPSN Tommy Li Added phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) for gene: RAPSN
BabyScreen+ newborn screening v1.114 RAG2 Tommy Li Added phenotypes Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 for gene: RAG2
BabyScreen+ newborn screening v1.114 RAG1 Tommy Li Added phenotypes Omenn syndrome MIM# 603554; Combined cellular and humoral immune defects with granulomas MIM# 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Severe combined immunodeficiency, B cell-negative MIM# 601457 for gene: RAG1
BabyScreen+ newborn screening v1.114 RAC2 Tommy Li Added phenotypes Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986 for gene: RAC2
BabyScreen+ newborn screening v1.114 RAB27A Tommy Li Added phenotypes Griscelli syndrome, MIM#607624 for gene: RAB27A
Publications for gene RAB27A were updated from 32374962; 32107531 to 32107531; 32374962
BabyScreen+ newborn screening v1.114 QDPR Tommy Li Added phenotypes Dihydropteridine reductase deficiency, MIM#261630 for gene: QDPR
BabyScreen+ newborn screening v1.114 PYGL Tommy Li Added phenotypes Glycogen storage disease VI, MIM# 232700 for gene: PYGL
BabyScreen+ newborn screening v1.114 PTS Tommy Li Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM#261640 for gene: PTS
BabyScreen+ newborn screening v1.114 PTPRQ Tommy Li Added phenotypes Deafness, autosomal dominant 73, MIM# 617663; Deafness, autosomal recessive 84A, MIM# 613391 for gene: PTPRQ
BabyScreen+ newborn screening v1.114 PTPRC Tommy Li Added phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 for gene: PTPRC
BabyScreen+ newborn screening v1.114 PTF1A Tommy Li Added phenotypes Pancreatic agenesis 2, MIM# 615935; Pancreatic and cerebellar agenesis, MIM# 609069 for gene: PTF1A
BabyScreen+ newborn screening v1.114 PTCH1 Tommy Li Added phenotypes Basal cell nevus syndrome, MIM# 109400 for gene: PTCH1
BabyScreen+ newborn screening v1.114 PSTPIP1 Tommy Li Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 for gene: PSTPIP1
BabyScreen+ newborn screening v1.114 PROP1 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600 for gene: PROP1
BabyScreen+ newborn screening v1.114 PRKDC Tommy Li Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966 for gene: PRKDC
BabyScreen+ newborn screening v1.114 PRKAR1A Tommy Li Added phenotypes Carney complex, type 1, MIM# 160980 for gene: PRKAR1A
BabyScreen+ newborn screening v1.114 PRF1 Tommy Li Added phenotypes Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 for gene: PRF1
BabyScreen+ newborn screening v1.114 PRDX1 Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400 for gene: PRDX1
BabyScreen+ newborn screening v1.114 PPOX Tommy Li Added phenotypes Variegate porphyria, childhood-onset, MIM# 620483 for gene: PPOX
BabyScreen+ newborn screening v1.114 POU3F4 Tommy Li Added phenotypes Deafness, X-linked 2, MIM#304400 for gene: POU3F4
BabyScreen+ newborn screening v1.114 POU1F1 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 for gene: POU1F1
BabyScreen+ newborn screening v1.114 POR Tommy Li Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571 for gene: POR
BabyScreen+ newborn screening v1.114 POMC Tommy Li Added phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 for gene: POMC
BabyScreen+ newborn screening v1.114 POLE Tommy Li Added phenotypes IMAGE-I syndrome, MIM# 618336 for gene: POLE
BabyScreen+ newborn screening v1.114 PNPO Tommy Li Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 for gene: PNPO
Publications for gene PNPO were updated from 34769443; 32888189 to 32888189; 34769443
BabyScreen+ newborn screening v1.114 PNP Tommy Li Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179 for gene: PNP
BabyScreen+ newborn screening v1.114 PLS3 Tommy Li Added phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 for gene: PLS3
Publications for gene PLS3 were updated from 32655496; 25209159; 29736964; 29884797; 28777485; 24088043 to 24088043; 28777485; 29736964; 32655496; 29884797; 25209159
BabyScreen+ newborn screening v1.114 PLPBP Tommy Li Added phenotypes Epilepsy, early-onset, vitamin B6-dependent , MIM#617290 for gene: PLPBP
BabyScreen+ newborn screening v1.114 PLG Tommy Li Added phenotypes Plasminogen deficiency, type I, MIM# 217090 for gene: PLG
Publications for gene PLG were updated from 29548426; 28795768; 10233898; 9242524; 29987869; 21174000 to 10233898; 28795768; 29548426; 21174000; 9242524; 29987869
BabyScreen+ newborn screening v1.114 PKLR Tommy Li Added phenotypes Pyruvate kinase deficiency, MIM#266200 for gene: PKLR
BabyScreen+ newborn screening v1.114 PIK3R1 Tommy Li Added phenotypes Immunodeficiency 36, MIM# 616005; Agammaglobulinemia 7, autosomal recessive, MIM# 615214 for gene: PIK3R1
Publications for gene PIK3R1 were updated from 31111319; 33401995; 34033842 to 33401995; 34033842; 31111319
BabyScreen+ newborn screening v1.114 PIK3CD Tommy Li Added phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513 for gene: PIK3CD
Publications for gene PIK3CD were updated from 30911953; 31111319; 34033842; 30040974; 30336224; 29180244; 16984281; 24136356; 24165795; 24610295 to 29180244; 31111319; 24136356; 34033842; 24610295; 30336224; 30040974; 24165795; 16984281; 30911953
BabyScreen+ newborn screening v1.114 PHKG2 Tommy Li Added phenotypes Glycogen storage disease IXc, MIM# 613027 for gene: PHKG2
BabyScreen+ newborn screening v1.114 PHKB Tommy Li Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868 for gene: PHKB
BabyScreen+ newborn screening v1.114 PHKA2 Tommy Li Added phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000 for gene: PHKA2
BabyScreen+ newborn screening v1.114 PHGDH Tommy Li Added phenotypes Phosphoglycerate dehydrogenase deficiency, MIM# 601815 for gene: PHGDH
BabyScreen+ newborn screening v1.114 PHEX Tommy Li Added phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800 for gene: PHEX
BabyScreen+ newborn screening v1.114 PGM3 Tommy Li Added phenotypes Immunodeficiency 23, MIM# 615816 for gene: PGM3
BabyScreen+ newborn screening v1.114 PGM1 Tommy Li Added phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 for gene: PGM1
BabyScreen+ newborn screening v1.114 PDZD7 Tommy Li Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Deafness, autosomal recessive 57, MIM# 618003 for gene: PDZD7
BabyScreen+ newborn screening v1.114 PDX1 Tommy Li Added phenotypes Pancreatic agenesis, MIM# # 260370 for gene: PDX1
BabyScreen+ newborn screening v1.114 PDP1 Tommy Li Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782 for gene: PDP1
BabyScreen+ newborn screening v1.114 PDHX Tommy Li Added phenotypes Lactic acidaemia due to PDX1 deficiency, MIM# 245349 for gene: PDHX
Publications for gene PDHX were updated from 20002125; 33092611 to 33092611; 20002125
BabyScreen+ newborn screening v1.114 PDHB Tommy Li Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111 for gene: PDHB
BabyScreen+ newborn screening v1.114 PDHA1 Tommy Li Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 for gene: PDHA1
BabyScreen+ newborn screening v1.114 PCSK9 Tommy Li Added phenotypes Hypercholesterolaemia, familial, 3, MIM# 603776 for gene: PCSK9
BabyScreen+ newborn screening v1.114 PCDH15 Tommy Li Added phenotypes Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 for gene: PCDH15
BabyScreen+ newborn screening v1.114 PCCB Tommy Li Added phenotypes Propionicacidaemia, MIM#606054 for gene: PCCB
BabyScreen+ newborn screening v1.114 PCCA Tommy Li Added phenotypes Propionic acidaemia, MIM#606054 for gene: PCCA
BabyScreen+ newborn screening v1.114 PCBD1 Tommy Li Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 for gene: PCBD1
BabyScreen+ newborn screening v1.114 PC Tommy Li Added phenotypes Pyruvate carboxylase deficiency, MIM# 266150 for gene: PC
BabyScreen+ newborn screening v1.114 PAX8 Tommy Li Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 for gene: PAX8
BabyScreen+ newborn screening v1.114 PAX3 Tommy Li Added phenotypes Waardenburg syndrome, type 1, OMIM 193500 for gene: PAX3
BabyScreen+ newborn screening v1.114 PALB2 Tommy Li Added phenotypes Fanconi anemia, complementation group N, MIM# 610832 for gene: PALB2
BabyScreen+ newborn screening v1.114 PAH Tommy Li Added phenotypes Phenylketonuria, MIM#261600 for gene: PAH
BabyScreen+ newborn screening v1.114 P3H1 Tommy Li Added phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915) for gene: P3H1
Publications for gene P3H1 were updated from 17277775; 18566967 to 18566967; 17277775
BabyScreen+ newborn screening v1.114 OXCT1 Tommy Li Added phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050 for gene: OXCT1
BabyScreen+ newborn screening v1.114 OTX2 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 for gene: OTX2
Publications for gene OTX2 were updated from 18728160; 35320640; 33950863 to 18728160; 33950863; 35320640
BabyScreen+ newborn screening v1.114 OTULIN Tommy Li Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 for gene: OTULIN
BabyScreen+ newborn screening v1.114 OTOGL Tommy Li Added phenotypes Deafness, autosomal recessive 84B, MIM# 614944 for gene: OTOGL
BabyScreen+ newborn screening v1.114 OTOG Tommy Li Added phenotypes Deafness, autosomal recessive 18B - MIM#614945 for gene: OTOG
BabyScreen+ newborn screening v1.114 OTOF Tommy Li Added phenotypes Deafness, autosomal recessive 9, MIM#601071 for gene: OTOF
BabyScreen+ newborn screening v1.114 OTOA Tommy Li Added phenotypes Deafness, autosomal recessive 22, MIM#607039 for gene: OTOA
BabyScreen+ newborn screening v1.114 OTC Tommy Li Added phenotypes Ornithine transcarbamylase deficiency, MIM#311250 for gene: OTC
BabyScreen+ newborn screening v1.114 ORAI1 Tommy Li Added phenotypes Immunodeficiency 9, MIM# 612782 for gene: ORAI1
BabyScreen+ newborn screening v1.114 OAT Tommy Li Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 for gene: OAT
BabyScreen+ newborn screening v1.114 OAS1 Tommy Li Added phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 for gene: OAS1
BabyScreen+ newborn screening v1.114 NR5A1 Tommy Li Added phenotypes Adrenocortical insufficiency, (MIM#612964) for gene: NR5A1
BabyScreen+ newborn screening v1.114 NR3C2 Tommy Li Added phenotypes Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735 for gene: NR3C2
BabyScreen+ newborn screening v1.114 NR0B1 Tommy Li Added phenotypes Adrenal hypoplasia, congenital (MIM# 300200) for gene: NR0B1
BabyScreen+ newborn screening v1.114 NPC2 Tommy Li Added phenotypes Niemann-Pick disease type C2, MIM#607625 for gene: NPC2
BabyScreen+ newborn screening v1.114 NPC1 Tommy Li Added phenotypes Niemann-Pick disease type C1, MIM#257220 for gene: NPC1
BabyScreen+ newborn screening v1.114 NNT Tommy Li Added phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736 for gene: NNT
BabyScreen+ newborn screening v1.114 NKX2-5 Tommy Li Added phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 for gene: NKX2-5
BabyScreen+ newborn screening v1.114 NKX2-1 Tommy Li Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 for gene: NKX2-1
BabyScreen+ newborn screening v1.114 NIPAL4 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 6, MIM# 612281 for gene: NIPAL4
BabyScreen+ newborn screening v1.114 NHEJ1 Tommy Li Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 for gene: NHEJ1
BabyScreen+ newborn screening v1.114 NFKBIA Tommy Li Added phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 for gene: NFKBIA
BabyScreen+ newborn screening v1.114 NEUROG3 Tommy Li Added phenotypes Diarrhoea 4, malabsorptive, congenital, MIM# 610370 for gene: NEUROG3
Publications for gene NEUROG3 were updated from 32574610; 16855267; 21490072; 28724572 to 32574610; 28724572; 21490072; 16855267
BabyScreen+ newborn screening v1.114 NCF4 Tommy Li Added phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 for gene: NCF4
BabyScreen+ newborn screening v1.114 NCF2 Tommy Li Added phenotypes Chronic granulomatous disease, MIM#233710 for gene: NCF2
BabyScreen+ newborn screening v1.114 NAGS Tommy Li Added phenotypes N-acetylglutamate synthetase deficiency, MIM#237310 for gene: NAGS
BabyScreen+ newborn screening v1.114 NAGLU Tommy Li Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 for gene: NAGLU
BabyScreen+ newborn screening v1.114 MYSM1 Tommy Li Added phenotypes Bone marrow failure syndrome 4, MIM# 618116 for gene: MYSM1
BabyScreen+ newborn screening v1.114 MYO7A Tommy Li Added phenotypes Usher syndrome, type 1B, MIM# 276900; Deafness, autosomal recessive 2, 600060 for gene: MYO7A
BabyScreen+ newborn screening v1.114 MYO6 Tommy Li Added phenotypes Deafness, autosomal recessive 37, MIM# 607821 for gene: MYO6
BabyScreen+ newborn screening v1.114 MYO3A Tommy Li Added phenotypes Deafness, autosomal recessive 30, MIM:607101 for gene: MYO3A
BabyScreen+ newborn screening v1.114 MYO15A Tommy Li Added phenotypes Deafness, autosomal recessive 3, MIM# 600316 for gene: MYO15A
BabyScreen+ newborn screening v1.114 MYH7 Tommy Li Added phenotypes Cardiomyopathy, hypertrophic, 1, MIM# 192600 for gene: MYH7
BabyScreen+ newborn screening v1.114 MYD88 Tommy Li Added phenotypes Immunodeficiency 68, MIM# 612260 for gene: MYD88
Publications for gene MYD88 were updated from 18669862; 20538326; 31301515 to 18669862; 31301515; 20538326
BabyScreen+ newborn screening v1.114 MVK Tommy Li Added phenotypes Mevalonic aciduria, MIM# 610377 for gene: MVK
BabyScreen+ newborn screening v1.114 MUT Tommy Li Added phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 for gene: MUT
BabyScreen+ newborn screening v1.114 MUSK Tommy Li Added phenotypes Congenital myasthenic syndrome, MIM#616325 for gene: MUSK
BabyScreen+ newborn screening v1.114 MTTP Tommy Li Added phenotypes Abetalipoproteinemia, MIM# 200100 for gene: MTTP
BabyScreen+ newborn screening v1.114 MTRR Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, MIM#236270 for gene: MTRR
BabyScreen+ newborn screening v1.114 MT-RNR1 Tommy Li Added phenotypes Aminoglycoside sensitivity for gene: MT-RNR1
BabyScreen+ newborn screening v1.114 MTR Tommy Li Added phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 for gene: MTR
BabyScreen+ newborn screening v1.114 MTHFD1 Tommy Li Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 for gene: MTHFD1
Publications for gene MTHFD1 were updated from 32414565; 19033438 to 19033438; 32414565
BabyScreen+ newborn screening v1.114 MSH6 Tommy Li Added phenotypes Mismatch repair cancer syndrome 3, MIM# 619097 for gene: MSH6
BabyScreen+ newborn screening v1.114 MSH2 Tommy Li Added phenotypes Mismatch repair cancer syndrome 2, MIM# 619096 for gene: MSH2
BabyScreen+ newborn screening v1.114 MRAP Tommy Li Added phenotypes Glucocorticoid deficiency 2, MIM# 607398 for gene: MRAP
BabyScreen+ newborn screening v1.114 MPL Tommy Li Added phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 for gene: MPL
BabyScreen+ newborn screening v1.114 MPI Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 for gene: MPI
Publications for gene MPI were updated from 32266963; 19101627 to 19101627; 32266963
BabyScreen+ newborn screening v1.114 MOCS1 Tommy Li Added phenotypes Molybdenum cofactor deficiency, MIM#252150 for gene: MOCS1
Publications for gene MOCS1 were updated from 20385644; 26343839 to 26343839; 20385644
BabyScreen+ newborn screening v1.114 MNX1 Tommy Li Added phenotypes Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related for gene: MNX1
BabyScreen+ newborn screening v1.114 MMADHC Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410 for gene: MMADHC
BabyScreen+ newborn screening v1.114 MMACHC Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 for gene: MMACHC
BabyScreen+ newborn screening v1.114 MMAB Tommy Li Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110 for gene: MMAB
BabyScreen+ newborn screening v1.114 MMAA Tommy Li Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 for gene: MMAA
BabyScreen+ newborn screening v1.114 MLYCD Tommy Li Added phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 for gene: MLYCD
BabyScreen+ newborn screening v1.114 MLH1 Tommy Li Added phenotypes Mismatch repair cancer syndrome 1, MIM# 276300 for gene: MLH1
BabyScreen+ newborn screening v1.114 MITF Tommy Li Added phenotypes Waardenburg syndrome, type 2A, MIM# 193510; Deafness for gene: MITF
BabyScreen+ newborn screening v1.114 MESD Tommy Li Added phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 for gene: MESD
Publications for gene MESD were updated from 31564437; 35092157; 33596325; 31564437 to 31564437; 35092157; 33596325
BabyScreen+ newborn screening v1.114 MEFV Tommy Li Added phenotypes Familial Mediterranean fever MIM# 249100 for gene: MEFV
BabyScreen+ newborn screening v1.114 MCEE Tommy Li Added phenotypes Methylmalonyl-CoA epimerase deficiency MIM#251120 for gene: MCEE
BabyScreen+ newborn screening v1.114 MC2R Tommy Li Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 for gene: MC2R
BabyScreen+ newborn screening v1.114 MARVELD2 Tommy Li Added phenotypes Deafness, autosomal recessive 49, MIM# 610153 for gene: MARVELD2
BabyScreen+ newborn screening v1.114 MAN2B1 Tommy Li Added phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 for gene: MAN2B1
BabyScreen+ newborn screening v1.114 MALT1 Tommy Li Added phenotypes Immunodeficiency 12 MIM# 615468 for gene: MALT1
BabyScreen+ newborn screening v1.114 MAGT1 Tommy Li Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) for gene: MAGT1
Publications for gene MAGT1 were updated from 31036665; 31714901 to 31714901; 31036665
BabyScreen+ newborn screening v1.114 MAFB Tommy Li Added phenotypes Multicentric carpotarsal osteolysis syndrome (MIM#166300) for gene: MAFB
BabyScreen+ newborn screening v1.114 LYST Tommy Li Added phenotypes Chediak-Higashi syndrome, MIM#214500 for gene: LYST
BabyScreen+ newborn screening v1.114 LRTOMT Tommy Li Added phenotypes Deafness, autosomal recessive 63, MIM# 611451 for gene: LRTOMT
BabyScreen+ newborn screening v1.114 LRP5 Tommy Li Added phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 for gene: LRP5
BabyScreen+ newborn screening v1.114 LRBA Tommy Li Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 for gene: LRBA
Publications for gene LRBA were updated from 22608502; 22721650; 25468195; 26206937; 33155142; 31887391 to 26206937; 33155142; 31887391; 22721650; 22608502; 25468195
BabyScreen+ newborn screening v1.114 LPL Tommy Li Added phenotypes Lipoprotein lipase deficiency, MIM# 238600 for gene: LPL
BabyScreen+ newborn screening v1.114 LOXHD1 Tommy Li Added phenotypes Deafness, autosomal recessive 77, MIM# 613079 for gene: LOXHD1
BabyScreen+ newborn screening v1.114 LMBRD1 Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, MIM#277380 for gene: LMBRD1
BabyScreen+ newborn screening v1.114 LIPA Tommy Li Added phenotypes Wolman syndrome, MIM#278000 for gene: LIPA
BabyScreen+ newborn screening v1.114 LIG4 Tommy Li Added phenotypes LIG4 syndrome, MIM# 606593 for gene: LIG4
Publications for gene LIG4 were updated from 16088910; 9823897; 10911993; 15333585; 9809069; 12023982; 11040211; 15175260; 19451691; 17554302; 11779494 to 12023982; 11040211; 16088910; 15175260; 9823897; 17554302; 10911993; 11779494; 15333585; 9809069; 19451691
BabyScreen+ newborn screening v1.114 LIG1 Tommy Li Added phenotypes Immunodeficiency 96, MIM# 619774 for gene: LIG1
BabyScreen+ newborn screening v1.114 LHX4 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 4, MIM# 262700 for gene: LHX4
BabyScreen+ newborn screening v1.114 LHX3 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, MIM#221750 for gene: LHX3
BabyScreen+ newborn screening v1.114 LHFPL5 Tommy Li Added phenotypes Deafness, autosomal recessive 67, MIM# 610265 for gene: LHFPL5
BabyScreen+ newborn screening v1.114 LEPR Tommy Li Added phenotypes Obesity, morbid, due to leptin receptor deficiency (MIM#614963) for gene: LEPR
BabyScreen+ newborn screening v1.114 LEP Tommy Li Added phenotypes Obesity, morbid, due to leptin deficiency (MIM#614962) for gene: LEP
BabyScreen+ newborn screening v1.114 LDLR Tommy Li Added phenotypes Hypercholesterolemia, familial, 1, MIM# 143890 for gene: LDLR
BabyScreen+ newborn screening v1.114 LAT Tommy Li Added phenotypes Immunodeficiency 52, MIM# 617514 for gene: LAT
BabyScreen+ newborn screening v1.114 LAMA2 Tommy Li Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 for gene: LAMA2
BabyScreen+ newborn screening v1.114 KLHL3 Tommy Li Added phenotypes Pseudohypoaldosteronism, type IID, MIM# 614495 for gene: KLHL3
BabyScreen+ newborn screening v1.114 KDELR2 Tommy Li Added phenotypes Osteogenesis imperfecta 21, MIM# 619131 for gene: KDELR2
BabyScreen+ newborn screening v1.114 KCNQ1 Tommy Li Added phenotypes Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500 for gene: KCNQ1
BabyScreen+ newborn screening v1.114 KCNJ2 Tommy Li Added phenotypes Andersen syndrome MIM#170390 for gene: KCNJ2
BabyScreen+ newborn screening v1.114 KCNJ11 Tommy Li Added phenotypes Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Diabetes mellitus, transient neonatal, 3 610582 for gene: KCNJ11
BabyScreen+ newborn screening v1.114 KCNJ1 Tommy Li Added phenotypes Bartter syndrome, type 2, 241200 for gene: KCNJ1
BabyScreen+ newborn screening v1.114 KCNH2 Tommy Li Added phenotypes Long QT syndrome 2, MIM# 613688 for gene: KCNH2
BabyScreen+ newborn screening v1.114 JAK3 Tommy Li Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 for gene: JAK3
BabyScreen+ newborn screening v1.114 JAGN1 Tommy Li Added phenotypes Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 for gene: JAGN1
BabyScreen+ newborn screening v1.114 IYD Tommy Li Added phenotypes Thyroid dyshormonogenesis 4, MIM# 274800 for gene: IYD
Publications for gene IYD were updated from 18765512; 30240412; 18434651 to 18765512; 30240412; 18434651
BabyScreen+ newborn screening v1.114 IVD Tommy Li Added phenotypes Isovaleric acidemia, MIM#243500 for gene: IVD
BabyScreen+ newborn screening v1.114 ITK Tommy Li Added phenotypes Lymphoproliferative syndrome 1, MIM# 613011 for gene: ITK
BabyScreen+ newborn screening v1.114 ITGB3 Tommy Li Added phenotypes Glanzmann thrombasthenia 2, MIM# 619267 for gene: ITGB3
BabyScreen+ newborn screening v1.114 ITGB2 Tommy Li Added phenotypes Leukocyte adhesion deficiency, MIM# 116920 for gene: ITGB2
BabyScreen+ newborn screening v1.114 ITGA2B Tommy Li Added phenotypes Glanzmann thrombasthaenia 1, MIM# 273800 for gene: ITGA2B
BabyScreen+ newborn screening v1.114 IRS4 Tommy Li Added phenotypes Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 for gene: IRS4
BabyScreen+ newborn screening v1.114 IRF8 Tommy Li Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 for gene: IRF8
BabyScreen+ newborn screening v1.114 IRAK4 Tommy Li Added phenotypes Immunodeficiency 67, MIM# 607676 for gene: IRAK4
BabyScreen+ newborn screening v1.114 INS Tommy Li Added phenotypes Maturity-onset diabetes of the young, type 10, MIM# 613370; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Diabetes mellitus, insulin-dependent, 2, MIM# 125852 for gene: INS
BabyScreen+ newborn screening v1.114 ILDR1 Tommy Li Added phenotypes Deafness, autosomal recessive 42, MIM# 609646 for gene: ILDR1
BabyScreen+ newborn screening v1.114 IL7R Tommy Li Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 for gene: IL7R
BabyScreen+ newborn screening v1.114 IL36RN Tommy Li Added phenotypes Psoriasis 14, pustular, MIM# 614204 for gene: IL36RN
BabyScreen+ newborn screening v1.114 IL2RG Tommy Li Added phenotypes Severe combined immunodeficiency, X-linked, MIM#312863 for gene: IL2RG
BabyScreen+ newborn screening v1.114 IL2RB Tommy Li Added phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495 for gene: IL2RB
BabyScreen+ newborn screening v1.114 IL2RA Tommy Li Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367 for gene: IL2RA
BabyScreen+ newborn screening v1.114 IL21R Tommy Li Added phenotypes Immunodeficiency 56, MIM# 615207 for gene: IL21R
BabyScreen+ newborn screening v1.114 IL1RN Tommy Li Added phenotypes Interleukin 1 receptor antagonist deficiency, MIM# 612852 for gene: IL1RN
BabyScreen+ newborn screening v1.114 IL10RB Tommy Li Added phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 for gene: IL10RB
BabyScreen+ newborn screening v1.114 IL10RA Tommy Li Added phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 for gene: IL10RA
BabyScreen+ newborn screening v1.114 IL10 Tommy Li Added phenotypes Autoinflammatory syndrome, MONDO:0019751, IL10-related for gene: IL10
Publications for gene IL10 were updated from 22236434; 20951137; 19890111 to 20951137; 22236434; 19890111
BabyScreen+ newborn screening v1.114 IKZF1 Tommy Li Added phenotypes Immunodeficiency, common variable, 13 MIM# 616873 for gene: IKZF1
BabyScreen+ newborn screening v1.114 IKBKB Tommy Li Added phenotypes Immunodeficiency 15B, MIM# 615592 for gene: IKBKB
BabyScreen+ newborn screening v1.114 IGSF1 Tommy Li Added phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888 for gene: IGSF1
BabyScreen+ newborn screening v1.114 IGLL1 Tommy Li Added phenotypes Agammaglobulinaemia 2, MIM# 613500 for gene: IGLL1
BabyScreen+ newborn screening v1.114 IGHM Tommy Li Added phenotypes Agammaglobulinaemia 1, MIM# 601495 for gene: IGHM
BabyScreen+ newborn screening v1.114 IGF1 Tommy Li Added phenotypes Insulin-like growth factor I deficiency, MIM# 608747 for gene: IGF1
BabyScreen+ newborn screening v1.114 IFITM5 Tommy Li Added phenotypes Osteogenesis imperfecta, type V MIM#610967 for gene: IFITM5
Publications for gene IFITM5 were updated from 22863190; 22863195; 32383316; 24519609 to 24519609; 22863190; 22863195; 32383316
BabyScreen+ newborn screening v1.114 IDUA Tommy Li Added phenotypes Mucopolysaccharidosis type 1, MONDO:0001586 for gene: IDUA
BabyScreen+ newborn screening v1.114 IDS Tommy Li Added phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 for gene: IDS
BabyScreen+ newborn screening v1.114 ICOS Tommy Li Added phenotypes Immunodeficiency, common variable, 1 MIM# 607594 for gene: ICOS
BabyScreen+ newborn screening v1.114 HSD3B7 Tommy Li Added phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 for gene: HSD3B7
BabyScreen+ newborn screening v1.114 HSD3B2 Tommy Li Added phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 for gene: HSD3B2
BabyScreen+ newborn screening v1.114 HSD11B2 Tommy Li Added phenotypes MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030 for gene: HSD11B2
BabyScreen+ newborn screening v1.114 HOGA1 Tommy Li Added phenotypes Hyperoxaluria, primary, type III MIM#613616 for gene: HOGA1
Publications for gene HOGA1 were updated from 20797690; 21896830; 22391140 to 22391140; 21896830; 20797690
BabyScreen+ newborn screening v1.114 HMGCL Tommy Li Added phenotypes 3-hydroxy-3-methylglutaric aciduria, MIM#246450 for gene: HMGCL
BabyScreen+ newborn screening v1.114 HLCS Tommy Li Added phenotypes Holocarboxylase synthetase deficiency, MIM#253270 for gene: HLCS
BabyScreen+ newborn screening v1.114 HK1 Tommy Li Added phenotypes Hyperinsulinism MONDO:0002177, HK1-related for gene: HK1
BabyScreen+ newborn screening v1.114 HIBCH Tommy Li Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620 for gene: HIBCH
Publications for gene HIBCH were updated from 32642440; 17160907; 27400804 to 27400804; 32642440; 17160907
BabyScreen+ newborn screening v1.114 HGF Tommy Li Added phenotypes Deafness, autosomal recessive 39, MIM# 608265 for gene: HGF
BabyScreen+ newborn screening v1.114 HESX1 Tommy Li Added phenotypes Pituitary hormone deficiency, combined, 5, MIM# 182230 for gene: HESX1
BabyScreen+ newborn screening v1.114 HELLS Tommy Li Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911 for gene: HELLS
BabyScreen+ newborn screening v1.114 HBB Tommy Li Added phenotypes Sickle cell anaemia, MIM# 603903 for gene: HBB
BabyScreen+ newborn screening v1.114 HAX1 Tommy Li Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548 for gene: HAX1
BabyScreen+ newborn screening v1.114 HADHB Tommy Li Added phenotypes Mitochondrial trifunctional protein deficiency, MIM#609015 for gene: HADHB
BabyScreen+ newborn screening v1.114 HADHA Tommy Li Added phenotypes LCHAD deficiency, MIM# 609016; Mitochondrial trifunctional protein deficiency, MIM#609015 for gene: HADHA
BabyScreen+ newborn screening v1.114 HADH Tommy Li Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 for gene: HADH
BabyScreen+ newborn screening v1.114 GYS2 Tommy Li Added phenotypes Glycogen storage disease 0, liver (MIM#240600) for gene: GYS2
BabyScreen+ newborn screening v1.114 GUSB Tommy Li Added phenotypes Mucopolysaccharidosis VII, MIM#253220 for gene: GUSB
BabyScreen+ newborn screening v1.114 GRXCR1 Tommy Li Added phenotypes Deafness, autosomal recessive 25, MIM# 613285 for gene: GRXCR1
Publications for gene GRXCR1 were updated from 26445815; 20137778; 20137774; 26226137; 25802247; 26969326 to 26445815; 26969326; 20137774; 25802247; 20137778; 26226137
BabyScreen+ newborn screening v1.114 GRHPR Tommy Li Added phenotypes Hyperoxaluria, primary, type II, MIM# 260000 for gene: GRHPR
BabyScreen+ newborn screening v1.114 GREB1L Tommy Li Added phenotypes Deafness, autosomal dominant 80 MIM#619274 for gene: GREB1L
BabyScreen+ newborn screening v1.114 GPIHBP1 Tommy Li Added phenotypes familial chylomicronemia syndrome; Hyperlipoproteinemia, type 1D MIM#615947 for gene: GPIHBP1
BabyScreen+ newborn screening v1.114 GOT2 Tommy Li Added phenotypes Developmental and epileptic encephalopathy 82, MIM# 618721 for gene: GOT2
BabyScreen+ newborn screening v1.114 GNAS Tommy Li Added phenotypes Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism for gene: GNAS
BabyScreen+ newborn screening v1.114 GLUD1 Tommy Li Added phenotypes Hyperinsulinism, MIM#606762 for gene: GLUD1
BabyScreen+ newborn screening v1.114 GLRA1 Tommy Li Added phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 for gene: GLRA1
BabyScreen+ newborn screening v1.114 GLIS3 Tommy Li Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199 for gene: GLIS3
Publications for gene GLIS3 were updated from 29406006; 29992946; 27899417; 26259131 to 29406006; 29992946; 26259131; 27899417
BabyScreen+ newborn screening v1.114 GLA Tommy Li Added phenotypes Fabry disease (MIM# 301500) for gene: GLA
BabyScreen+ newborn screening v1.114 GJB2 Tommy Li Added phenotypes Deafness, autosomal recessive 1A, MIM# 220290 for gene: GJB2
BabyScreen+ newborn screening v1.114 GIPC3 Tommy Li Added phenotypes Deafness, autosomal recessive 15, MIM# 601869 for gene: GIPC3
BabyScreen+ newborn screening v1.114 GIF Tommy Li Added phenotypes Intrinsic factor deficiency, MIM# 261000 for gene: GIF
BabyScreen+ newborn screening v1.114 GHRHR Tommy Li Added phenotypes Growth hormone deficiency, isolated, type IV, MIM# 618157 for gene: GHRHR
Publications for gene GHRHR were updated from 8528260; 10084571; 11232012 to 11232012; 8528260; 10084571
BabyScreen+ newborn screening v1.114 GHR Tommy Li Added phenotypes Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500 for gene: GHR
BabyScreen+ newborn screening v1.114 GH1 Tommy Li Added phenotypes Growth hormone deficiency, isolated, type IA, MIM# 262400; Kowarski syndrome, MIM# 262650; Growth hormone deficiency, isolated, type II, MIM# 173100 for gene: GH1
BabyScreen+ newborn screening v1.114 GGCX Tommy Li Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 for gene: GGCX
BabyScreen+ newborn screening v1.114 GFI1 Tommy Li Added phenotypes Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 for gene: GFI1
Publications for gene GFI1 were updated from 12778173; 20560965; 11810106; 22684987 to 20560965; 12778173; 22684987; 11810106
BabyScreen+ newborn screening v1.114 GCM2 Tommy Li Added phenotypes Hypoparathyroidism, familial isolated 2, OMIM #618883; Hyperparathyroidism 4, OMIM #617343 for gene: GCM2
Publications for gene GCM2 were updated from 27745835; 20190276; 34967908; 35038313 to 34967908; 20190276; 35038313; 27745835
BabyScreen+ newborn screening v1.114 GCK Tommy Li Added phenotypes Hyperinsulinemic hypoglycemia, familial, MIM#602485 for gene: GCK
BabyScreen+ newborn screening v1.114 GCH1 Tommy Li Added phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 for gene: GCH1
BabyScreen+ newborn screening v1.114 GCDH Tommy Li Added phenotypes Glutaric aciduria, type I, MIM#231670 for gene: GCDH
BabyScreen+ newborn screening v1.114 GBA Tommy Li Added phenotypes Gaucher disease type 1, MIM#230800 for gene: GBA
BabyScreen+ newborn screening v1.114 GATM Tommy Li Added phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 for gene: GATM
BabyScreen+ newborn screening v1.114 GATA4 Tommy Li Added phenotypes Neonatal diabetes mellitus, MONDO:0016391, GATA4-related for gene: GATA4
BabyScreen+ newborn screening v1.114 GATA3 Tommy Li Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 for gene: GATA3
BabyScreen+ newborn screening v1.114 GATA2 Tommy Li Added phenotypes Emberger syndrome MIM# 614038; Immunodeficiency 21 MIM# 614172 for gene: GATA2
BabyScreen+ newborn screening v1.114 GAMT Tommy Li Added phenotypes Cerebral creatine deficiency syndrome 2, MIM# 612736 for gene: GAMT
BabyScreen+ newborn screening v1.114 GALT Tommy Li Added phenotypes Galactosaemia, MIM#230400 for gene: GALT
BabyScreen+ newborn screening v1.114 GALNT3 Tommy Li Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 for gene: GALNT3
BabyScreen+ newborn screening v1.114 GALNS Tommy Li Added phenotypes Mucopolysaccharidosis IVA, MIM#253000 for gene: GALNS
BabyScreen+ newborn screening v1.114 GALM Tommy Li Added phenotypes Galactosemia IV MIM#618881 for gene: GALM
BabyScreen+ newborn screening v1.114 GALK1 Tommy Li Added phenotypes Galactokinase deficiency with cataracts, MIM#230200 for gene: GALK1
BabyScreen+ newborn screening v1.114 GALE Tommy Li Added phenotypes Galactose epimerase deficiency , MIM#230350 for gene: GALE
BabyScreen+ newborn screening v1.114 GALC Tommy Li Added phenotypes Krabbe disease, MIM#245200 for gene: GALC
BabyScreen+ newborn screening v1.114 GAA Tommy Li Added phenotypes Glycogen storage disease II, Pompe disease, MIM# 232300 for gene: GAA
BabyScreen+ newborn screening v1.114 G6PD Tommy Li Added phenotypes Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 for gene: G6PD
BabyScreen+ newborn screening v1.114 G6PC3 Tommy Li Added phenotypes Neutropaenia, congenital, MIM#612541 for gene: G6PC3
BabyScreen+ newborn screening v1.114 G6PC Tommy Li Added phenotypes Glycogen storage disease Ia, MIM#232200 for gene: G6PC
BabyScreen+ newborn screening v1.114 FUCA1 Tommy Li Added phenotypes Fucosidosis, MIM# 230000 for gene: FUCA1
BabyScreen+ newborn screening v1.114 FOXP3 Tommy Li Added phenotypes IPEX syndrome, MIM#304790 for gene: FOXP3
BabyScreen+ newborn screening v1.114 FOXN1 Tommy Li Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806 for gene: FOXN1
Publications for gene FOXN1 were updated from 31447097; 18339010; 10206641 to 18339010; 10206641; 31447097
BabyScreen+ newborn screening v1.114 FOXE1 Tommy Li Added phenotypes Bamforth-Lazarus syndrome MIM# 241850 for gene: FOXE1
Publications for gene FOXE1 were updated from 33272083; 2918525; 20453517; 35963604 to 35963604; 2918525; 33272083; 20453517
BabyScreen+ newborn screening v1.114 FOXA2 Tommy Li Added phenotypes Hyperinsulinism MONDO:0002177 for gene: FOXA2
BabyScreen+ newborn screening v1.114 FOLR1 Tommy Li Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 for gene: FOLR1
Publications for gene FOLR1 were updated from 19732866; 30420205; 27743887 to 30420205; 27743887; 19732866
BabyScreen+ newborn screening v1.114 FLAD1 Tommy Li Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 for gene: FLAD1
BabyScreen+ newborn screening v1.114 FKBP10 Tommy Li Added phenotypes Osteogenesis imperfecta, type XI, OMIM:610968 for gene: FKBP10
BabyScreen+ newborn screening v1.114 FH Tommy Li Added phenotypes Fumurase deficiency MIM# 606812 for gene: FH
BabyScreen+ newborn screening v1.114 FGG Tommy Li Added phenotypes Afibrinogenemia, congenital, MIM# 202400 for gene: FGG
BabyScreen+ newborn screening v1.114 FGFR3 Tommy Li Added phenotypes Achondroplasia MONDO:0007037 for gene: FGFR3
Publications for gene FGFR3 were updated from 34341520; 31269546 to 31269546; 34341520
BabyScreen+ newborn screening v1.114 FGF3 Tommy Li Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706 for gene: FGF3
BabyScreen+ newborn screening v1.114 FGF23 Tommy Li Added phenotypes familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; autosomal dominant hypophosphatemic rickets MONDO:0008660 for gene: FGF23
BabyScreen+ newborn screening v1.114 FGB Tommy Li Added phenotypes Afibrinogenaemia, congenital, MIM# 202400 for gene: FGB
BabyScreen+ newborn screening v1.114 FGA Tommy Li Added phenotypes Afibrinogenemia, congenital (MIM#202400) for gene: FGA
BabyScreen+ newborn screening v1.114 FERMT3 Tommy Li Added phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 for gene: FERMT3
BabyScreen+ newborn screening v1.114 FECH Tommy Li Added phenotypes Protoporphyria, erythropoietic, 1, MIM# 177000 for gene: FECH
BabyScreen+ newborn screening v1.114 FCHO1 Tommy Li Added phenotypes Immunodeficiency 76, MIM# 619164 for gene: FCHO1
Publications for gene FCHO1 were updated from 32098969; 30822429 to 30822429; 32098969
BabyScreen+ newborn screening v1.114 FBP1 Tommy Li Added phenotypes Fructose-1,6-bisphosphatase deficiency MIM# 229700 for gene: FBP1
BabyScreen+ newborn screening v1.114 FBN1 Tommy Li Added phenotypes Marfan syndrome, MIM# 154700 for gene: FBN1
BabyScreen+ newborn screening v1.114 FANCI Tommy Li Added phenotypes Fanconi anaemia, MIM#609053 for gene: FANCI
BabyScreen+ newborn screening v1.114 FANCG Tommy Li Added phenotypes Fanconi anaemia, MIM#614082 for gene: FANCG
BabyScreen+ newborn screening v1.114 FANCD2 Tommy Li Added phenotypes MONDO:0009214; Fanconi anaemia, complementation group D2, MIM# 227646 for gene: FANCD2
BabyScreen+ newborn screening v1.114 FANCC Tommy Li Added phenotypes MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645 for gene: FANCC
BabyScreen+ newborn screening v1.114 FANCB Tommy Li Added phenotypes Fanconi anaemia, complementation group B, MIM# 300514 for gene: FANCB
BabyScreen+ newborn screening v1.114 FANCA Tommy Li Added phenotypes MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650 for gene: FANCA
BabyScreen+ newborn screening v1.114 FAM111A Tommy Li Added phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 for gene: FAM111A
BabyScreen+ newborn screening v1.114 FAH Tommy Li Added phenotypes Tyrosinaemia, type I, MIM#276700 for gene: FAH
BabyScreen+ newborn screening v1.114 F9 Tommy Li Added phenotypes Haemophilia B, MIM#306900 for gene: F9
BabyScreen+ newborn screening v1.114 F7 Tommy Li Added phenotypes Factor VII deficiency MIM# 227500 for gene: F7
BabyScreen+ newborn screening v1.114 F13B Tommy Li Added phenotypes Factor XIIIB deficiency, MIM#613235 for gene: F13B
BabyScreen+ newborn screening v1.114 F13A1 Tommy Li Added phenotypes Factor XIIIA deficiency, MIM# 613225 for gene: F13A1
BabyScreen+ newborn screening v1.114 F10 Tommy Li Added phenotypes Factor X deficiency, MIM# 227600 for gene: F10
BabyScreen+ newborn screening v1.114 ETHE1 Tommy Li Added phenotypes Ethylmalonic encephalopathy, MIM#602473 for gene: ETHE1
BabyScreen+ newborn screening v1.114 ETFDH Tommy Li Added phenotypes Glutaric acidemia IIC, MIM#231680 for gene: ETFDH
BabyScreen+ newborn screening v1.114 ETFB Tommy Li Added phenotypes Glutaric acidemia IIB, MIM#231680 for gene: ETFB
BabyScreen+ newborn screening v1.114 ETFA Tommy Li Added phenotypes Glutaric acidaemia IIA, MIM#231680 for gene: ETFA
BabyScreen+ newborn screening v1.114 ESRRB Tommy Li Added phenotypes Deafness, autosomal recessive 35, MIM#608565 for gene: ESRRB
BabyScreen+ newborn screening v1.114 ESPN Tommy Li Added phenotypes Deafness, autosomal recessive 36, MIM# 609006 for gene: ESPN
Publications for gene ESPN were updated from 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 to 15286153; 26445815; 15930085; 28281779; 10975527; 18973245
BabyScreen+ newborn screening v1.114 ERCC4 Tommy Li Added phenotypes Fanconi anemia, complementation group Q, MIM# 615272 for gene: ERCC4
BabyScreen+ newborn screening v1.114 EPS8 Tommy Li Added phenotypes Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428 for gene: EPS8
BabyScreen+ newborn screening v1.114 ENPP1 Tommy Li Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Arterial calcification, generalized, of infancy, 1, MIM# 208000 for gene: ENPP1
BabyScreen+ newborn screening v1.114 ENG Tommy Li Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 for gene: ENG
BabyScreen+ newborn screening v1.114 ELANE Tommy Li Added phenotypes Neutropenia, congenital, MIM#202700 for gene: ELANE
BabyScreen+ newborn screening v1.114 EIF2AK3 Tommy Li Added phenotypes Wolcott-Rallison syndrome, MIM#226980 for gene: EIF2AK3
BabyScreen+ newborn screening v1.114 EFL1 Tommy Li Added phenotypes Shwachman-Diamond syndrome 2, MIM# 617941 for gene: EFL1
BabyScreen+ newborn screening v1.114 EDNRB Tommy Li Added phenotypes Waardenburg syndrome, type 4A, MIM# 277580 for gene: EDNRB
BabyScreen+ newborn screening v1.114 EDN3 Tommy Li Added phenotypes Waardenburg syndrome, type 4B, MIM# 613265 for gene: EDN3
BabyScreen+ newborn screening v1.114 ECHS1 Tommy Li Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 for gene: ECHS1
BabyScreen+ newborn screening v1.114 DUOXA2 Tommy Li Added phenotypes Thyroid dyshormonogenesis 5, MIM# 274900 for gene: DUOXA2
BabyScreen+ newborn screening v1.114 DUOX2 Tommy Li Added phenotypes Thyroid dyshormonogenesis 6, MIM# 607200 for gene: DUOX2
BabyScreen+ newborn screening v1.114 DPAGT1 Tommy Li Added phenotypes DPAGT1-CDG MONDO:0011964; Congenital disorder of glycosylation, type Ij, MIM# 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 for gene: DPAGT1
BabyScreen+ newborn screening v1.114 DOK7 Tommy Li Added phenotypes Congenital myasthenic syndrome, MIM# 254300 for gene: DOK7
BabyScreen+ newborn screening v1.114 DOCK8 Tommy Li Added phenotypes Hyper-IgE syndrome, MIM#243700 for gene: DOCK8
BabyScreen+ newborn screening v1.114 DOCK2 Tommy Li Added phenotypes Immunodeficiency 40 MIM# 616433 for gene: DOCK2
Publications for gene DOCK2 were updated from 26083206; 29204803; 33928462; 30826364; 30838481; 11518968 to 30838481; 29204803; 30826364; 11518968; 33928462; 26083206
BabyScreen+ newborn screening v1.114 DNMT3B Tommy Li Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 for gene: DNMT3B
BabyScreen+ newborn screening v1.114 DNASE2 Tommy Li Added phenotypes Autoinflammatory-pancytopenia syndrome, MIM# 619858 for gene: DNASE2
Publications for gene DNASE2 were updated from 29259162; 31775019 to 31775019; 29259162
BabyScreen+ newborn screening v1.114 DNAJC21 Tommy Li Added phenotypes Bone marrow failure syndrome 3, MIM# 617052 for gene: DNAJC21
BabyScreen+ newborn screening v1.114 DNAJC12 Tommy Li Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 for gene: DNAJC12
BabyScreen+ newborn screening v1.114 DMP1 Tommy Li Added phenotypes Hypophosphatemic rickets MIM#241520 for gene: DMP1
BabyScreen+ newborn screening v1.114 DLAT Tommy Li Added phenotypes Pyruvate dehydrogenase E2 deficiency, MIM# 245348 for gene: DLAT
BabyScreen+ newborn screening v1.114 DICER1 Tommy Li Added phenotypes DICER1 syndrome, MONDO:0017288 for gene: DICER1
BabyScreen+ newborn screening v1.114 DHFR Tommy Li Added phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 for gene: DHFR
BabyScreen+ newborn screening v1.114 DHCR7 Tommy Li Added phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 for gene: DHCR7
BabyScreen+ newborn screening v1.114 DGAT1 Tommy Li Added phenotypes Diarrhea 7, protein-losing enteropathy type , MIM# 615863 for gene: DGAT1
BabyScreen+ newborn screening v1.114 DFNB59 Tommy Li Added phenotypes Deafness, autosomal recessive 59, MIM# 610220 for gene: DFNB59
BabyScreen+ newborn screening v1.114 DDC Tommy Li Added phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM#608643 for gene: DDC
BabyScreen+ newborn screening v1.114 DCLRE1C Tommy Li Added phenotypes Omenn syndrome, MIM# 603554; Severe combined immunodeficiency, Athabascan type MIM# 602450 for gene: DCLRE1C
BabyScreen+ newborn screening v1.114 DBT Tommy Li Added phenotypes Maple syrup urine disease, MIM#248600 for gene: DBT
BabyScreen+ newborn screening v1.114 CYP7B1 Tommy Li Added phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812 for gene: CYP7B1
Publications for gene CYP7B1 were updated from 24658845; 31337596; 30366773; 9802883 to 24658845; 9802883; 31337596; 30366773
BabyScreen+ newborn screening v1.114 CYP2R1 Tommy Li Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 for gene: CYP2R1
BabyScreen+ newborn screening v1.114 CYP27B1 Tommy Li Added phenotypes Vitamin D-dependent rickets, type I MIM#264700 for gene: CYP27B1
BabyScreen+ newborn screening v1.114 CYP27A1 Tommy Li Added phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 for gene: CYP27A1
BabyScreen+ newborn screening v1.114 CYP21A2 Tommy Li Added phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 for gene: CYP21A2
BabyScreen+ newborn screening v1.114 CYP17A1 Tommy Li Added phenotypes 17,20-lyase deficiency, isolated , MIM#202110 for gene: CYP17A1
BabyScreen+ newborn screening v1.114 CYP11B2 Tommy Li Added phenotypes Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600; Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400 for gene: CYP11B2
BabyScreen+ newborn screening v1.114 CYP11B1 Tommy Li Added phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 for gene: CYP11B1
BabyScreen+ newborn screening v1.114 CYP11A1 Tommy Li Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743 for gene: CYP11A1
BabyScreen+ newborn screening v1.114 CYBB Tommy Li Added phenotypes Chronic granulomatous disease, MIM#306400 for gene: CYBB
BabyScreen+ newborn screening v1.114 CYBA Tommy Li Added phenotypes Chronic granulomatous disease, MIM#233690 for gene: CYBA
BabyScreen+ newborn screening v1.114 CYB561 Tommy Li Added phenotypes Orthostatic hypotension 2, MIM# 618182 for gene: CYB561
BabyScreen+ newborn screening v1.114 CXCR4 Tommy Li Added phenotypes WHIM syndrome 1, MIM# 193670 for gene: CXCR4
BabyScreen+ newborn screening v1.114 CUL3 Tommy Li Added phenotypes Pseudohypoaldosteronism, type IIE 614496 for gene: CUL3
BabyScreen+ newborn screening v1.114 CUBN Tommy Li Added phenotypes Megaloblastic anaemia-1, Finnish type, MIM#261100 for gene: CUBN
BabyScreen+ newborn screening v1.114 CTPS1 Tommy Li Added phenotypes Immunodeficiency 24, MIM# 615897 for gene: CTPS1
BabyScreen+ newborn screening v1.114 CTNS Tommy Li Added phenotypes Cystinosis, nephropathic MIM#219800 for gene: CTNS
BabyScreen+ newborn screening v1.114 CSF3R Tommy Li Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014 for gene: CSF3R
BabyScreen+ newborn screening v1.114 CRTAP Tommy Li Added phenotypes Osteogenesis imperfecta, type VII, MIM# MIM#610682 for gene: CRTAP
BabyScreen+ newborn screening v1.114 CPT2 Tommy Li Added phenotypes CPT II deficiency, myopathic, stress-induced 255110; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649 for gene: CPT2
BabyScreen+ newborn screening v1.114 CPT1A Tommy Li Added phenotypes Carnitine palmitoyltransferase I deficiency, MIM#255120 for gene: CPT1A
BabyScreen+ newborn screening v1.114 CPS1 Tommy Li Added phenotypes Carbamoylphosphate synthetase I deficiency, MIM#237300 for gene: CPS1
BabyScreen+ newborn screening v1.114 CORO1A Tommy Li Added phenotypes Immunodeficiency 8 MIM# 615401 for gene: CORO1A
BabyScreen+ newborn screening v1.114 COQ8A Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 for gene: COQ8A
BabyScreen+ newborn screening v1.114 COQ6 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 6, MIM# 614650 for gene: COQ6
BabyScreen+ newborn screening v1.114 COQ4 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 for gene: COQ4
BabyScreen+ newborn screening v1.114 COQ2 Tommy Li Added phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 for gene: COQ2
BabyScreen+ newborn screening v1.114 COLQ Tommy Li Added phenotypes Congenital myasthenic syndrome, MIM#603034 for gene: COLQ
BabyScreen+ newborn screening v1.114 COL9A3 Tommy Li Added phenotypes Stickler syndrome, type VI, MIM# 620022 for gene: COL9A3
BabyScreen+ newborn screening v1.114 COL9A2 Tommy Li Added phenotypes Stickler syndrome, type V, MIM# 614284 for gene: COL9A2
BabyScreen+ newborn screening v1.114 COL9A1 Tommy Li Added phenotypes Stickler syndrome, type IV, MIM#614134 for gene: COL9A1
BabyScreen+ newborn screening v1.114 COL4A5 Tommy Li Added phenotypes Alport syndrome 1, X-linked, MIM# 301050 for gene: COL4A5
BabyScreen+ newborn screening v1.114 COL4A4 Tommy Li Added phenotypes Alport syndrome 2, autosomal recessive MIM#203780 for gene: COL4A4
BabyScreen+ newborn screening v1.114 COL4A3 Tommy Li Added phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 for gene: COL4A3
BabyScreen+ newborn screening v1.114 COL2A1 Tommy Li Added phenotypes Stickler syndrome, type I, MIM# 108300 for gene: COL2A1
BabyScreen+ newborn screening v1.114 COL1A2 Tommy Li Added phenotypes Osteogenesis imperfecta, type II , MIM#166210 for gene: COL1A2
BabyScreen+ newborn screening v1.114 COL1A1 Tommy Li Added phenotypes Osteogenesis imperfecta, type I, MIM#166200 for gene: COL1A1
BabyScreen+ newborn screening v1.114 COL13A1 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 19, MIM# 616720 for gene: COL13A1
BabyScreen+ newborn screening v1.114 COL11A2 Tommy Li Added phenotypes Deafness, autosomal recessive 53, MIM# 609706 for gene: COL11A2
BabyScreen+ newborn screening v1.114 COL11A1 Tommy Li Added phenotypes Stickler syndrome, type II, MIM# 604841 for gene: COL11A1
BabyScreen+ newborn screening v1.114 COCH Tommy Li Added phenotypes Deafness, autosomal recessive 110, MIM# 618094 for gene: COCH
Publications for gene COCH were updated from 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 to 32939038; 26256111; 21046548; 22931125; 18697796; 28099493; 17561763; 16151338; 32562050; 9806553; 29449721; 28116169; 18312449; 28733840; 22610276
BabyScreen+ newborn screening v1.114 CLPP Tommy Li Added phenotypes Perrault syndrome 3, MIM# 614129 for gene: CLPP
Publications for gene CLPP were updated from 25254289; 27087618; 27899912; 23541340 to 27899912; 25254289; 23541340; 27087618
BabyScreen+ newborn screening v1.114 CLDN14 Tommy Li Added phenotypes Deafness, autosomal recessive 29, MIM# 614035 for gene: CLDN14
BabyScreen+ newborn screening v1.114 CLCN7 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 4, MIM# 611490 for gene: CLCN7
BabyScreen+ newborn screening v1.114 CIITA Tommy Li Added phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 for gene: CIITA
BabyScreen+ newborn screening v1.114 CIB2 Tommy Li Added phenotypes Deafness, autosomal recessive 48, MIM# 609439 for gene: CIB2
Publications for gene CIB2 were updated from 27344577; 26473954; 26445815; 23023331; 26173970; 26226137 to 26173970; 23023331; 26445815; 26473954; 26226137; 27344577
BabyScreen+ newborn screening v1.114 CHRNE Tommy Li Added phenotypes Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
BabyScreen+ newborn screening v1.114 CHRND Tommy Li Added phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Multiple pterygium syndrome, lethal type, MIM# 253290; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; MONDO:0009668; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 for gene: CHRND
BabyScreen+ newborn screening v1.114 CHRNB1 Tommy Li Added phenotypes Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 for gene: CHRNB1
BabyScreen+ newborn screening v1.114 CHRNA1 Tommy Li Added phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 for gene: CHRNA1
BabyScreen+ newborn screening v1.114 CHAT Tommy Li Added phenotypes Congenital myasthenic syndrome, MIM#254210 for gene: CHAT
BabyScreen+ newborn screening v1.114 CFTR Tommy Li Added phenotypes Cystic fibrosis, MIM#219700 for gene: CFTR
BabyScreen+ newborn screening v1.114 CFP Tommy Li Added phenotypes Properdin deficiency, X-linked, MIM#312060 for gene: CFP
BabyScreen+ newborn screening v1.114 CFI Tommy Li Added phenotypes Complement factor I deficiency MIM#610984 for gene: CFI
BabyScreen+ newborn screening v1.114 CFH Tommy Li Added phenotypes Complement factor H deficiency, MIM# 609814 for gene: CFH
BabyScreen+ newborn screening v1.114 CFD Tommy Li Added phenotypes Complement factor D deficiency, MIM# 613912 for gene: CFD
Publications for gene CFD were updated from 11457876; 16527897; 31440263 to 16527897; 11457876; 31440263
BabyScreen+ newborn screening v1.114 CEBPE Tommy Li Added phenotypes Specific granule deficiency, MIM# 245480 for gene: CEBPE
BabyScreen+ newborn screening v1.114 CDKN1C Tommy Li Added phenotypes IMAGe syndrome, MIM# 614732 for gene: CDKN1C
BabyScreen+ newborn screening v1.114 CDH23 Tommy Li Added phenotypes Usher syndrome, type 1D/F digenic (MIM #601067); Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386) for gene: CDH23
BabyScreen+ newborn screening v1.114 CDCA8 Tommy Li Added phenotypes Congenital hypothyroidism, MONDO:0018612, CDCA8-related for gene: CDCA8
BabyScreen+ newborn screening v1.114 CDCA7 Tommy Li Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 for gene: CDCA7
BabyScreen+ newborn screening v1.114 CDC14A Tommy Li Added phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 for gene: CDC14A
BabyScreen+ newborn screening v1.114 CD79B Tommy Li Added phenotypes Agammaglobulinaemia 6, MIM# 612692 for gene: CD79B
BabyScreen+ newborn screening v1.114 CD79A Tommy Li Added phenotypes Agammaglobulinaemia 3, MIM# 613501 for gene: CD79A
BabyScreen+ newborn screening v1.114 CD70 Tommy Li Added phenotypes Lymphoproliferative syndrome 3, MIM# 618261 for gene: CD70
BabyScreen+ newborn screening v1.114 CD55 Tommy Li Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 for gene: CD55
BabyScreen+ newborn screening v1.114 CD40LG Tommy Li Added phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 for gene: CD40LG
BabyScreen+ newborn screening v1.114 CD40 Tommy Li Added phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 for gene: CD40
BabyScreen+ newborn screening v1.114 CD3G Tommy Li Added phenotypes Immunodeficiency 17; CD3 gamma deficient MIM# 615607 for gene: CD3G
BabyScreen+ newborn screening v1.114 CD3E Tommy Li Added phenotypes Immunodeficiency 18, MIM# 615615 for gene: CD3E
BabyScreen+ newborn screening v1.114 CD3D Tommy Li Added phenotypes Immunodeficiency 19, MIM# 615617 for gene: CD3D
BabyScreen+ newborn screening v1.114 CD27 Tommy Li Added phenotypes CD27-deficiency MIM# 615122 for gene: CD27
Publications for gene CD27 were updated from 22197273; 22801960; 22365582; 25843314; 11062504 to 22197273; 25843314; 22801960; 22365582; 11062504
BabyScreen+ newborn screening v1.114 CD247 Tommy Li Added phenotypes Immunodeficiency 25, MIM# 610163 for gene: CD247
Publications for gene CD247 were updated from 16672702; 17170122 to 17170122; 16672702
BabyScreen+ newborn screening v1.114 CD19 Tommy Li Added phenotypes Immunodeficiency, common variable, 3, MIM# 613493 for gene: CD19
BabyScreen+ newborn screening v1.114 CBS Tommy Li Added phenotypes Homocystinuria (MIM# 236200) for gene: CBS
BabyScreen+ newborn screening v1.114 CAVIN1 Tommy Li Added phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 for gene: CAVIN1
Publications for gene CAVIN1 were updated from 19726876; 20300641; 20684003; 18840361 to 19726876; 18840361; 20684003; 20300641
BabyScreen+ newborn screening v1.114 CAV1 Tommy Li Added phenotypes Lipodystrophy, congenital generalized, type 3, MIM# 612526 for gene: CAV1
BabyScreen+ newborn screening v1.114 CASR Tommy Li Added phenotypes Hypocalcemia, autosomal dominant MIM#601198; Hyperparathyroidism, neonatal MIM#239200 for gene: CASR
BabyScreen+ newborn screening v1.114 CARD11 Tommy Li Added phenotypes Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 for gene: CARD11
Publications for gene CARD11 were updated from 23374270; 28628108; 23561803; 12818158 to 23374270; 23561803; 28628108; 12818158
BabyScreen+ newborn screening v1.114 CALM3 Tommy Li Added phenotypes Long QT syndrome 16, MIM#618782 for gene: CALM3
BabyScreen+ newborn screening v1.114 CAD Tommy Li Added phenotypes Developmental and epileptic encephalopathy 50, MIM# 616457 for gene: CAD
BabyScreen+ newborn screening v1.114 CACNA1S Tommy Li Added phenotypes Malignant hyperthermia susceptibility 5, MIM# 601887 for gene: CACNA1S
BabyScreen+ newborn screening v1.114 CABP2 Tommy Li Added phenotypes Deafness, autosomal recessive 93, MIM# 614899 for gene: CABP2
BabyScreen+ newborn screening v1.114 CA5A Tommy Li Added phenotypes Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751 for gene: CA5A
BabyScreen+ newborn screening v1.114 CA2 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 for gene: CA2
BabyScreen+ newborn screening v1.114 CA12 Tommy Li Added phenotypes Hyperchlorhidrosis, isolated MIM#143860 for gene: CA12
BabyScreen+ newborn screening v1.114 C9 Tommy Li Added phenotypes C9 deficiency, MIM# 613825 for gene: C9
BabyScreen+ newborn screening v1.114 C8B Tommy Li Added phenotypes C8 deficiency, type II, MIM# 613789 for gene: C8B
BabyScreen+ newborn screening v1.114 C7 Tommy Li Added phenotypes C7 deficiency, MIM# 610102 for gene: C7
BabyScreen+ newborn screening v1.114 C6 Tommy Li Added phenotypes C6 deficiency, MIM# 612446 for gene: C6
BabyScreen+ newborn screening v1.114 C5 Tommy Li Added phenotypes C5 deficiency, MIM# 609536 for gene: C5
BabyScreen+ newborn screening v1.114 C3 Tommy Li Added phenotypes C3 deficiency, MIM# 613779 for gene: C3
BabyScreen+ newborn screening v1.114 C2 Tommy Li Added phenotypes C2 deficiency, MIM# 217000 for gene: C2
BabyScreen+ newborn screening v1.114 C17orf62 Tommy Li Added phenotypes Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 for gene: C17orf62
Publications for gene C17orf62 were updated from 30361506; 30312704; 28351984 to 30312704; 30361506; 28351984
BabyScreen+ newborn screening v1.114 BTK Tommy Li Added phenotypes Agammaglobulinemia, X-linked 1, MIM#300755 for gene: BTK
BabyScreen+ newborn screening v1.114 BTD Tommy Li Added phenotypes Biotinidase deficiency, MIM#253260 for gene: BTD
BabyScreen+ newborn screening v1.114 BSND Tommy Li Added phenotypes Bartter syndrome, type 4a, MIM# 602522 for gene: BSND
BabyScreen+ newborn screening v1.114 BSCL2 Tommy Li Added phenotypes Berardinelli-Seip lipodystrophy; Lipodystrophy, congenital generalized, type 2, MIM# 269700 for gene: BSCL2
BabyScreen+ newborn screening v1.114 BRIP1 Tommy Li Added phenotypes Fanconi anaemia, complementation group J, MIM# 609054 for gene: BRIP1
BabyScreen+ newborn screening v1.114 BRCA2 Tommy Li Added phenotypes Fanconi anaemia, complementation group D1, MIM# 605724 for gene: BRCA2
BabyScreen+ newborn screening v1.114 BRCA1 Tommy Li Added phenotypes Fanconi anemia, complementation group S, MIM# 617883 for gene: BRCA1
BabyScreen+ newborn screening v1.114 BMP1 Tommy Li Added phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 for gene: BMP1
BabyScreen+ newborn screening v1.114 BLNK Tommy Li Added phenotypes Agammaglobulinaemia 4, MIM#613502 for gene: BLNK
Publications for gene BLNK were updated from 10583958; 32194234; 25893637 to 25893637; 10583958; 32194234
BabyScreen+ newborn screening v1.114 BCKDK Tommy Li Added phenotypes Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923 for gene: BCKDK
BabyScreen+ newborn screening v1.114 BCKDHB Tommy Li Added phenotypes Maple syrup urine disease, type Ib, MIM# 248600 for gene: BCKDHB
BabyScreen+ newborn screening v1.114 BCKDHA Tommy Li Added phenotypes Maple syrup urine disease, type Ia, MIM# 248600 for gene: BCKDHA
BabyScreen+ newborn screening v1.114 BCHE Tommy Li Added phenotypes Butyrylcholinesterase deficiency, MIM# 617936 for gene: BCHE
BabyScreen+ newborn screening v1.114 AVPR2 Tommy Li Added phenotypes Diabetes insipidus, nephrogenic, MIM#304800 for gene: AVPR2
BabyScreen+ newborn screening v1.114 AVP Tommy Li Added phenotypes Diabetes insipidus, neurohypophyseal MIM#125700 for gene: AVP
Publications for gene AVP were updated from 32052034; 31238300 to 31238300; 32052034
BabyScreen+ newborn screening v1.114 ATP7B Tommy Li Added phenotypes Wilson disease MIM#277900 for gene: ATP7B
BabyScreen+ newborn screening v1.114 ATP7A Tommy Li Added phenotypes Menkes disease, MIM# 309400 for gene: ATP7A
BabyScreen+ newborn screening v1.114 ATP6V1B1 Tommy Li Added phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 for gene: ATP6V1B1
BabyScreen+ newborn screening v1.114 ATP6V0A4 Tommy Li Added phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 for gene: ATP6V0A4
BabyScreen+ newborn screening v1.114 ASS1 Tommy Li Added phenotypes Citrullinaemia, MIM#215700 for gene: ASS1
BabyScreen+ newborn screening v1.114 ASL Tommy Li Added phenotypes Argininosuccinic aciduria, MIM#207900 for gene: ASL
BabyScreen+ newborn screening v1.114 ARSB Tommy Li Added phenotypes Mucopolysaccharidosis VI (MPS6, MIM# 253200 for gene: ARSB
BabyScreen+ newborn screening v1.114 ARSA Tommy Li Added phenotypes Metachromatic leukodystrophy, MIM# 250100 for gene: ARSA
BabyScreen+ newborn screening v1.114 ARPC1B Tommy Li Added phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 for gene: ARPC1B
BabyScreen+ newborn screening v1.114 ARG1 Tommy Li Added phenotypes Arginase deficiency, MIM#207800 for gene: ARG1
BabyScreen+ newborn screening v1.114 AQP2 Tommy Li Added phenotypes Diabetes insipidus, nephrogenic, 2, MIM#125800 for gene: AQP2
Publications for gene AQP2 were updated from 7537761; 11536078 to 11536078; 7537761
BabyScreen+ newborn screening v1.114 AP3B1 Tommy Li Added phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 for gene: AP3B1
BabyScreen+ newborn screening v1.114 AMN Tommy Li Added phenotypes Megaloblastic anemia-1, Norwegian type, MIM#618882 for gene: AMN
BabyScreen+ newborn screening v1.114 AMACR Tommy Li Added phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 for gene: AMACR
BabyScreen+ newborn screening v1.114 ALPL Tommy Li Added phenotypes Hypophosphatasia, infantile OMIM#241500; Hypophosphatasia, childhood OMIM#241510 for gene: ALPL
Publications for gene ALPL were updated from 31413732; 30811537 to 30811537; 31413732
BabyScreen+ newborn screening v1.114 ALDOB Tommy Li Added phenotypes Fructose intolerance, hereditary, MIM# 229600 for gene: ALDOB
BabyScreen+ newborn screening v1.114 ALDH7A1 Tommy Li Added phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 for gene: ALDH7A1
BabyScreen+ newborn screening v1.114 ALDH4A1 Tommy Li Added phenotypes Hyperprolinemia, type II MIM#239510 for gene: ALDH4A1
Publications for gene ALDH4A1 were updated from 31884946; 34037900; 30930802; 34302426 to 31884946; 34302426; 30930802; 34037900
BabyScreen+ newborn screening v1.114 AKR1D1 Tommy Li Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1
BabyScreen+ newborn screening v1.114 AK2 Tommy Li Added phenotypes Reticular dysgenesis, MIM# 267500; MONDO:0009973 for gene: AK2
BabyScreen+ newborn screening v1.114 AIRE Tommy Li Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 for gene: AIRE
BabyScreen+ newborn screening v1.114 AICDA Tommy Li Added phenotypes Immunodeficiency with hyper-IgM, type 2, MIM# 605258 for gene: AICDA
BabyScreen+ newborn screening v1.114 AHCY Tommy Li Added phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 for gene: AHCY
BabyScreen+ newborn screening v1.114 AGXT Tommy Li Added phenotypes Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823 for gene: AGXT
BabyScreen+ newborn screening v1.114 AGRN Tommy Li Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120 for gene: AGRN
BabyScreen+ newborn screening v1.114 AGL Tommy Li Added phenotypes Glycogen storage disease IIIa, MIM#232400 for gene: AGL
BabyScreen+ newborn screening v1.114 ADGRV1 Tommy Li Added phenotypes Usher syndrome, type 2C, MIM# 605472 for gene: ADGRV1
BabyScreen+ newborn screening v1.114 ADAMTS13 Tommy Li Added phenotypes Thrombotic thrombocytopenic purpura, familial, MIM#274150 for gene: ADAMTS13
BabyScreen+ newborn screening v1.114 ADA2 Tommy Li Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 for gene: ADA2
BabyScreen+ newborn screening v1.114 ADA Tommy Li Added phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064 for gene: ADA
BabyScreen+ newborn screening v1.114 ACVRL1 Tommy Li Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 for gene: ACVRL1
BabyScreen+ newborn screening v1.114 ACTA2 Tommy Li Added phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 for gene: ACTA2
BabyScreen+ newborn screening v1.114 ACAT1 Tommy Li Added phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 for gene: ACAT1
BabyScreen+ newborn screening v1.114 ACADVL Tommy Li Added phenotypes VLCAD deficiency, MIM#201475 for gene: ACADVL
Publications for gene ACADVL were updated from 31372341; 32885845 to 32885845; 31372341
BabyScreen+ newborn screening v1.114 ACADM Tommy Li Added phenotypes Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 for gene: ACADM
BabyScreen+ newborn screening v1.114 ACAD9 Tommy Li Added phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 for gene: ACAD9
BabyScreen+ newborn screening v1.114 ABCG5 Tommy Li Added phenotypes Sitosterolaemia 2, MIM# 618666 for gene: ABCG5
BabyScreen+ newborn screening v1.114 ABCD4 Tommy Li Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 for gene: ABCD4
Publications for gene ABCD4 were updated from 22922874; 30651581; 28572511; 31113616; 33729671 to 30651581; 28572511; 33729671; 31113616; 22922874
BabyScreen+ newborn screening v1.114 ABCD1 Tommy Li Added phenotypes Adrenoleukodystrophy, MIM# 300100 for gene: ABCD1
BabyScreen+ newborn screening v1.114 ABCC8 Tommy Li Added phenotypes Hyperinsulinemic hypoglycemia, familial, MIM#256450 for gene: ABCC8
BabyScreen+ newborn screening v1.114 ABCC6 Tommy Li Added phenotypes Arterial calcification, generalized, of infancy, 2, #MIM614473 for gene: ABCC6
Publications for gene ABCC6 were updated from 33005041; 34355424 to 34355424; 33005041
BabyScreen+ newborn screening v1.114 AAAS Tommy Li Added phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550 for gene: AAAS
Prepair 1000+ v1.9 AGL Marta Cifuentes Ochoa commented on gene: AGL: Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation
Bleeding and Platelet Disorders v1.43 PROC Jane Lin gene: PROC was added
gene: PROC was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROC were set to PMID: 2437584; PMID: 7670104; PMID: 10942114; PMID: 28265398
Phenotypes for gene: PROC were set to THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304
Review for gene: PROC was set to GREEN
gene: PROC was marked as current diagnostic
Added comment: Has well established gene-disease association with thrombosis. Biallelic inheritance is rare and there is evidence it is more severe but data is complicated by findings that some patients also have changes in Factor V Leiden so have not selected the option where biallelic inheritance is more severe.
Sources: Expert list
Bleeding and Platelet Disorders v1.43 PIGA Jane Lin gene: PIGA was added
gene: PIGA was added to Bleeding and Platelet Disorders. Sources: Expert list
Mode of inheritance for gene: PIGA was set to Unknown
Publications for gene: PIGA were set to PMID: 9019395; PMID: 28516949
Phenotypes for gene: PIGA were set to PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818
Review for gene: PIGA was set to RED
gene: PIGA was marked as current diagnostic
Added comment: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes.
Sources: Expert list
Prepair 1000+ v1.9 ATRX Andrew Coventry reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 AARS2 Clare Hunt reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL7R Lauren Rogers reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency 104 MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ASAH1 Lucy Spencer reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL2RG Lauren Rogers reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 IL1RN Lauren Rogers reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852, Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CRB1 Lauren Rogers reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4S1 Lucy Spencer reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM#614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HSD17B4 Lauren Rogers reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPSE2 Lauren Rogers reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4M1 Lucy Spencer reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ANTXR1 Lucy Spencer reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GAPO syndrome (MIM#230740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPGD Lauren Rogers reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALOXE3 Lucy Spencer reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALDH3A2 Lucy Spencer reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACADVL Lucy Spencer reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency (MIM#201475); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 GFM1 Lauren Rogers reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CD81 Lauren Rogers reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408, 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1891 CRNKL1 Zornitza Stark Marked gene: CRNKL1 as ready
Mendeliome v1.1891 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Mendeliome v1.1891 CRNKL1 Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence)
Mendeliome v1.1891 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 C1QA Lauren Rogers reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 9225968, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1890 DCC Zornitza Stark Publications for gene: DCC were set to 20431009; 31697046; 21242494; 28250454; 28250456; 25763452
Mendeliome v1.1889 DCC Zornitza Stark commented on gene: DCC: Third family reported with biallelic variants and scoliosis, PMID 33141514; novel homozygous frameshift variant (p.Asn800Lysfs*11) in three individuals.
Skeletal dysplasia v0.285 DCC Zornitza Stark Marked gene: DCC as ready
Skeletal dysplasia v0.285 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Skeletal dysplasia v0.285 DCC Zornitza Stark Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542
Skeletal dysplasia v0.284 DCC Zornitza Stark Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542
Skeletal dysplasia v0.283 DCC Zornitza Stark Publications for gene: DCC were set to 28250456
Skeletal dysplasia v0.282 DCC Zornitza Stark Classified gene: DCC as Green List (high evidence)
Skeletal dysplasia v0.282 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Mendeliome v1.1889 SLC7A5 Zornitza Stark Marked gene: SLC7A5 as ready
Mendeliome v1.1889 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Mendeliome v1.1889 SLC7A5 Zornitza Stark Classified gene: SLC7A5 as Red List (low evidence)
Mendeliome v1.1889 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Classified gene: SLC6A20 as Red List (low evidence)
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Classified gene: SLC25A22 as Green List (high evidence)
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Marked gene: SLC7A5 as ready
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Classified gene: SLC7A5 as Red List (low evidence)
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Classified gene: PYCR2 as Green List (high evidence)
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.121 PEPD Zornitza Stark Marked gene: PEPD as ready
Aminoacidopathy v1.121 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Aminoacidopathy v1.121 PEPD Zornitza Stark Classified gene: PEPD as Green List (high evidence)
Aminoacidopathy v1.121 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Aminoacidopathy v1.120 OPLAH Zornitza Stark Marked gene: OPLAH as ready
Aminoacidopathy v1.120 OPLAH Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence).
Aminoacidopathy v1.120 OPLAH Zornitza Stark Classified gene: OPLAH as Red List (low evidence)
Aminoacidopathy v1.120 OPLAH Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence).
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Marked gene: NFE2L2 as ready
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.118 GSR Zornitza Stark Marked gene: GSR as ready
Aminoacidopathy v1.118 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.118 GSR Zornitza Stark Classified gene: GSR as Amber List (moderate evidence)
Aminoacidopathy v1.118 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.117 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Aminoacidopathy v1.117 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.117 GRHPR Zornitza Stark Classified gene: GRHPR as Green List (high evidence)
Aminoacidopathy v1.117 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.116 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Aminoacidopathy v1.116 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.116 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Aminoacidopathy v1.116 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.115 GCLC Zornitza Stark Marked gene: GCLC as ready
Aminoacidopathy v1.115 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Aminoacidopathy v1.115 GCLC Zornitza Stark Classified gene: GCLC as Green List (high evidence)
Aminoacidopathy v1.115 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Aminoacidopathy v1.114 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Aminoacidopathy v1.114 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Aminoacidopathy v1.114 GRM6 Zornitza Stark Classified gene: GRM6 as Green List (high evidence)
Aminoacidopathy v1.114 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 ABHD5 Lauren Thomas reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.113 GRM6 Sangavi Sivagnanasundram gene: GRM6 was added
gene: GRM6 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM6 were set to 22008250
Phenotypes for gene: GRM6 were set to GRM6-related retinopathy MONDO:0800397
Review for gene: GRM6 was set to GREEN
Added comment: GRM6-related retinopathy is a glutamate neurotransmitter disorders affecting the ON-centre of the retinal ganglion cells.

>5 unrelated families with a night blindness phenotype due to a defective signal transmission at the ON-centre.
Sources: Other
Aminoacidopathy v1.113 SLC25A22 Sangavi Sivagnanasundram gene: SLC25A22 was added
gene: SLC25A22 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A22 were set to 15592994; 19780765; 24596948
Phenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062
Review for gene: SLC25A22 was set to GREEN
Added comment: Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport.
Three unrelated families reported with three different rare missense variants.
Sources: Other
Aminoacidopathy v1.113 XPNPEP3 Sangavi Sivagnanasundram gene: XPNPEP3 was added
gene: XPNPEP3 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 32660933; 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MONDO:0013163
Review for gene: XPNPEP3 was set to GREEN
Added comment: XPNPEP3 is member of the X-pro-aminopeptidases family.

A total of 3 unrelated families (with different variants) reported with abnormal renal function due to an inborn error of peptide metabolism

32660933 - individual case with a rare frameshift variant p.Q241Tfs*13 who also had evidence of an inborn error of peptide metabolism.
Sources: Other
Aminoacidopathy v1.113 PEPD Sangavi Sivagnanasundram gene: PEPD was added
gene: PEPD was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 2365824; 19308961; 16470701
Phenotypes for gene: PEPD were set to Prolidase deficiency MONDO:0008221
Review for gene: PEPD was set to GREEN
Added comment: Well established gene-disease association with >10 individuals reported with variants in PEPD and a clinical phenotype associated with prolidase deficiency.
Prolidase deficiency is a classified inborn error of amino acid metabolism.
LoF appears to be the mechanism of disease (https://search.clinicalgenome.org/CCID:007640)
Sources: Other
Aminoacidopathy v1.113 PYCR2 Sangavi Sivagnanasundram edited their review of gene: PYCR2: Changed rating: GREEN
Aminoacidopathy v1.113 PYCR2 Sangavi Sivagnanasundram changed review comment from: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism.
Sources: Other; to: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation along with other phenotypes including failure to thrive.

Sources: Other
Aminoacidopathy v1.113 PYCR2 Sangavi Sivagnanasundram gene: PYCR2 was added
gene: PYCR2 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR2 were set to 25865492; 27130255
Phenotypes for gene: PYCR2 were set to Hypomyelinating leukodystrophy 10 MONDO:0014632; Disorders of ornithine, proline and hydroxyproline metabolism
Review for gene: PYCR2 was set to RED
Added comment: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism.
Sources: Other
Mendeliome v1.1888 SLC7A5 Sangavi Sivagnanasundram gene: SLC7A5 was added
gene: SLC7A5 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: SLC7A5 was set to Unknown
Publications for gene: SLC7A5 were set to 29884839
Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182)
Review for gene: SLC7A5 was set to RED
Added comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association.
Sources: Other
Aminoacidopathy v1.113 SLC7A5 Sangavi Sivagnanasundram gene: SLC7A5 was added
gene: SLC7A5 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: SLC7A5 was set to Unknown
Publications for gene: SLC7A5 were set to 29884839
Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182)
Review for gene: SLC7A5 was set to RED
Added comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association.
Sources: Other
Aminoacidopathy v1.113 SLC6A20 Sangavi Sivagnanasundram gene: SLC6A20 was added
gene: SLC6A20 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 36820062; 19033659; 24816252
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria MONDO:0007677
Review for gene: SLC6A20 was set to RED
Added comment: Only one family reported with a rare missense variant and a clinical phenotype consistent with an inborn error of amino acid metabolism.

Cases have been reported in 19033659 and 24816252 however the variant is too common for a mendelian disease.

No other new publications have been released supporting the gene-disease association with relation to evidence of a biochemical abnormality.
Sources: Other
Skeletal dysplasia v0.281 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Speech apraxia v1.0 KDM5C Thomas Scerri changed review comment from: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo KDM5C frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with KDM5C variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review
Aminoacidopathy v1.113 NFE2L2 Sangavi Sivagnanasundram gene: NFE2L2 was added
gene: NFE2L2 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism
Review for gene: NFE2L2 was set to GREEN
Added comment: 4 unrelated patients with de novo missense variants affected with a multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms including an inborn error of amino acid metabolism.
Sources: Other
Aminoacidopathy v1.113 GPX4 Sangavi Sivagnanasundram gene: GPX4 was added
gene: GPX4 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to 24706940; 32827718
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593; Disorders of glutathione metabolism
Review for gene: GPX4 was set to GREEN
Added comment: SSMD is an inborn error of gluthathione metabolism. Reports of four children (two were siblings from a consanguineous family) with SSMD. Parents were unaffected carriers.
LoF is the mechanism of disease.
Sources: Other
Aminoacidopathy v1.113 GSR Sangavi Sivagnanasundram gene: GSR was added
gene: GSR was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSR were set to 17185460; 31122244
Phenotypes for gene: GSR were set to Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531; Disorders of glutathione metabolism
Review for gene: GSR was set to AMBER
Added comment: Not an established gene-disease association however there have been reports of two families reported with GR deficiency and there has been a report of functional evidence as well. More concrete evidence of biochemical abnormalities is required to promote the gene to green.
Sources: Other
Aminoacidopathy v1.113 OPLAH Sangavi Sivagnanasundram gene: OPLAH was added
gene: OPLAH was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27477828; 27604308
Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism
Review for gene: OPLAH was set to RED
Added comment: Variants have been reported in individuals however it appears that this inborn error of glutathione metabolism appears to be of benign nature.
Sources: Other
Mendeliome v1.1888 CRNKL1 Mark Cleghorn gene: CRNKL1 was added
gene: CRNKL1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CRNKL1 was set to GREEN
Added comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ
8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1
severe microcephaly (all, -8 to -11 SD)
ID/epilepsy
pontocerebellar hypoplasia (6/8)
simplified gyration (8/8)
7 variants are missense at p.Arg267 residue
1 variant missense at p.Arg301
RNA-seq on patient fibroblasts - no alteration in gene expression
Zebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis
RNA seq on affected zebrafish embryos - transcriptome strongly disrupted
Splicing analysis in progress

CRKNL1 supports U6 structure in spliceosome
Sources: Other
Aminoacidopathy v1.113 GCLC Sangavi Sivagnanasundram gene: GCLC was added
gene: GCLC was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 28571779; 10515893; 18024385
Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency MONDO:0009259; Disorders of glutathione metabolism
Review for gene: GCLC was set to GREEN
Added comment: Established gene-disease association with >3 unrelated probands reported with GCLC deficiency which is an inborn error of amino acid metabolism.
Sources: Other
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Classified gene: SLC25A15 as Green List (high evidence)
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Marked gene: SLC36A2 as ready
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Classified gene: SLC36A2 as Red List (low evidence)
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Classified gene: SLC38A8 as Green List (high evidence)
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Marked gene: SLC3A1 as ready
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Classified gene: SLC3A1 as Green List (high evidence)
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence)
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence)
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Marked gene: SLC7A9 as ready
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Classified gene: SLC7A9 as Green List (high evidence)
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Aminoacidopathy v1.104 SPR Zornitza Stark Marked gene: SPR as ready
Aminoacidopathy v1.104 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Aminoacidopathy v1.104 SPR Zornitza Stark Classified gene: SPR as Green List (high evidence)
Aminoacidopathy v1.104 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Aminoacidopathy v1.103 SUGCT Zornitza Stark Marked gene: SUGCT as ready
Aminoacidopathy v1.103 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.103 SUGCT Zornitza Stark Classified gene: SUGCT as Amber List (moderate evidence)
Aminoacidopathy v1.103 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.102 SUOX Zornitza Stark Marked gene: SUOX as ready
Aminoacidopathy v1.102 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Aminoacidopathy v1.102 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Aminoacidopathy v1.102 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Aminoacidopathy v1.101 TAT Zornitza Stark Marked gene: TAT as ready
Aminoacidopathy v1.101 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Aminoacidopathy v1.101 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Aminoacidopathy v1.101 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Aminoacidopathy v1.100 TDO2 Zornitza Stark Marked gene: TDO2 as ready
Aminoacidopathy v1.100 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.100 TDO2 Zornitza Stark Classified gene: TDO2 as Red List (low evidence)
Aminoacidopathy v1.100 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.99 TH Zornitza Stark Marked gene: TH as ready
Aminoacidopathy v1.99 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Aminoacidopathy v1.99 TH Zornitza Stark Classified gene: TH as Green List (high evidence)
Aminoacidopathy v1.99 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Aminoacidopathy v1.98 TYR Zornitza Stark Marked gene: TYR as ready
Aminoacidopathy v1.98 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Aminoacidopathy v1.98 TYR Zornitza Stark Classified gene: TYR as Green List (high evidence)
Aminoacidopathy v1.98 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Aminoacidopathy v1.97 GRHPR Sangavi Sivagnanasundram gene: GRHPR was added
gene: GRHPR was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 24116921
Phenotypes for gene: GRHPR were set to primary hyperoxaluria type 2 MONDO:0009824; Disorders of glyoxylate and oxalate metabolism
Review for gene: GRHPR was set to GREEN
Added comment: Well established gene - disease association with reported individuals having abnormal biochemical function.
Sources: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Marked gene: ZNF483 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.327 ZNF483 Zornitza Stark Classified gene: ZNF483 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.327 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1888 ZNF483 Zornitza Stark Marked gene: ZNF483 as ready
Mendeliome v1.1888 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1888 ZNF483 Zornitza Stark Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1887 ZNF483 Zornitza Stark Classified gene: ZNF483 as Amber List (moderate evidence)
Mendeliome v1.1887 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.97 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Aminoacidopathy v1.97 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.97 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Aminoacidopathy v1.97 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6063 CRNKL1 Zornitza Stark Marked gene: CRNKL1 as ready
Intellectual disability syndromic and non-syndromic v0.6063 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6063 CRNKL1 Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6063 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Microcephaly v1.269 CRNKL1 Zornitza Stark Marked gene: CRNKL1 as ready
Microcephaly v1.269 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Microcephaly v1.269 CRNKL1 Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence)
Microcephaly v1.269 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Marked gene: CRNKL1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.65 CRNKL1 Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Marked gene: HOGA1 as ready
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Classified gene: HOGA1 as Green List (high evidence)
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.95 HOGA1 Sangavi Sivagnanasundram gene: HOGA1 was added
gene: HOGA1 was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 26401545; 21896830; 20797690
Phenotypes for gene: HOGA1 were set to primary hyperoxaluria type 3 MONDO:0013327; Disorders of ornithine, proline and hydroxyproline metabolism
Review for gene: HOGA1 was set to GREEN
Added comment: Established gene-disease association with >4 unrelated individuals having evidence of abnormal biochemical function.
Sources: Other
Cerebellar and Pontocerebellar Hypoplasia v1.64 CRNKL1 Mark Cleghorn gene: CRNKL1 was added
gene: CRNKL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Other
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CRNKL1 was set to GREEN
Added comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ
8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1
severe microcephaly (all, -8 to -11 SD)
ID/epilepsy
pontocerebellar hypoplasia (6/8)
simplified gyration (8/8)
7 variants are missense at p.Arg267 residue
1 variant missense at p.Arg301
RNA-seq on patient fibroblasts - no alteration in gene expression
Zebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis
RNQ seq on affected zebrafish embryos - transcriptome strongly disrupted
Splicing analysis in progress

CRKNL1 supports U6 structure in spliceosome
Sources: Other
Microcephaly v1.268 CRNKL1 Mark Cleghorn gene: CRNKL1 was added
gene: CRNKL1 was added to Microcephaly. Sources: Other
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CRNKL1 was set to GREEN
Added comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ
8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1
severe microcephaly (all, -8 to -11 SD)
ID/epilepsy
pontocerebellar hypoplasia (6/8)
simplified gyration (8/8)
7 variants are missense at p.Arg267 residue
1 variant missense at p.Arg301
RNA-seq on patient fibroblasts - no alteration in gene expression
Zebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis
RNQ seq on affected zebrafish embryos - transcriptome strongly disrupted
Splicing analysis in progress

CRKNL1 supports U6 structure in spliceosome
Sources: Other
Intellectual disability syndromic and non-syndromic v0.6062 CRNKL1 Mark Cleghorn gene: CRNKL1 was added
gene: CRNKL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: CRNKL1 were set to Complete
Review for gene: CRNKL1 was set to GREEN
Added comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ
8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1
severe microcephaly (all, -8 to -11 SD)
ID/epilepsy
pontocerebellar hypoplasia (6/8)
simplified gyration (8/8)
7 variants are missense at p.Arg267 residue
1 variant missense at p.Arg301
RNA-seq on patient fibroblasts - no alteration in gene expression
Zebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis
RNQ seq on affected zebrafish embryos - transcriptome strongly disrupted
Splicing analysis in progress

CRKNL1 supports U6 structure in spliceosome
Sources: Other
Aminoacidopathy v1.95 UROC1 Sangavi Sivagnanasundram gene: UROC1 was added
gene: UROC1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 19304569; 30619714; 32439973; 27391121
Phenotypes for gene: UROC1 were set to urocanic aciduria MONDO:0010167
Review for gene: UROC1 was set to AMBER
Added comment: The relationship between the phenotypes and evidence of biochemical abnormality remains unclear for this gene-disease association.

Variants have been reported in 4 unrelated individuals however one individual was reported to be phenotypically asymptomatic except for evidence of urocanase deficiency in a biochemical assay (PMID: 30619714).

Classified Moderate by Aminoacidopathy GCEP on 26/04/2024 - https://search.clinicalgenome.org/CCID:006504
Sources: ClinGen
Mendeliome v1.1886 ZNF483 Mark Cleghorn gene: ZNF483 was added
gene: ZNF483 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF483 was set to Unknown
Publications for gene: ZNF483 were set to 38951643
Phenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387
Review for gene: ZNF483 was set to AMBER
Added comment: PMID: 38951643, ESHG 2024 presentation
Large cohort assessing PRS for age of menarche
Noted rare PTVs in ZNF483 assoc w earlier menarche
No individual case information in this study
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.326 ZNF483 Mark Cleghorn gene: ZNF483 was added
gene: ZNF483 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ZNF483 was set to Unknown
Publications for gene: ZNF483 were set to 38951643
Phenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387
Penetrance for gene: ZNF483 were set to unknown
Review for gene: ZNF483 was set to AMBER
Added comment: PMID: 38951643, ESHG 2024 presentation
Large cohort assessing PRS for age of menarche
Noted rare PTVs in ZNF483 assoc w earlier menarche
No individual case information in this study
Sources: Literature
Aminoacidopathy v1.95 TYR Sangavi Sivagnanasundram gene: TYR was added
gene: TYR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYR were set to 2511845; 32411182; 31199599; 29052256
Phenotypes for gene: TYR were set to oculocutaneous albinism type 1 MONDO:0018135
Review for gene: TYR was set to GREEN
Added comment: TYR encodes tyrosinase which vital in melanin synthesis. Reported individuals have an error in tyrosinase metabolism thus affecting melanin synthesis. >5 probands have been reported with errors in tyrosinase metabolism.

Classified Definitive by Aminoacidopathy GCEP on 28/08/2020 - https://search.clinicalgenome.org/CCID:006490
Sources: ClinGen
Aminoacidopathy v1.95 TH Sangavi Sivagnanasundram gene: TH was added
gene: TH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 30383639; 29225908; 22264700; 12891655
Phenotypes for gene: TH were set to tyrosine hydroxylase deficiency MONDO:0100064
Review for gene: TH was set to GREEN
Added comment: >10 unrelated probands reported with an inborn error in tyrosine metabolism.

Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006363
Sources: ClinGen
Aminoacidopathy v1.95 TDO2 Sangavi Sivagnanasundram gene: TDO2 was added
gene: TDO2 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDO2 were set to 28285122
Phenotypes for gene: TDO2 were set to familial hypertryptophanemia MONDO:0010907
Review for gene: TDO2 was set to RED
Added comment: Reported in one individual to date however there is evidence that this is a benign biochemical variant with no clinical significance.

Classified Limitied by Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:006345
Sources: ClinGen
Aminoacidopathy v1.95 TAT Sangavi Sivagnanasundram gene: TAT was added
gene: TAT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 9544843; 16917729
Phenotypes for gene: TAT were set to tyrosinemia type II MONDO:0010160
Review for gene: TAT was set to GREEN
Added comment: Well reported gene-disease association with affected individuals having reports of a deficiency in hepatic tyrosine aminotransferase (TAT).

Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006320
Sources: ClinGen
Aminoacidopathy v1.95 SUOX Sangavi Sivagnanasundram gene: SUOX was added
gene: SUOX was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 28980090
Phenotypes for gene: SUOX were set to isolated sulfite oxidase deficiency MONDO:0010089
Review for gene: SUOX was set to GREEN
Added comment: Well established gene-disease association (reported in >40 patients).

Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006301
Sources: ClinGen
Aminoacidopathy v1.95 SUGCT Sangavi Sivagnanasundram gene: SUGCT was added
gene: SUGCT was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUGCT were set to 18926513; 28766179; 29421601
Phenotypes for gene: SUGCT were set to glutaric acidemia type 3 MONDO:0009283
Review for gene: SUGCT was set to AMBER
Added comment: There is uncertain clinical relevance for this gene-disease association - reports of different clinical phenotypes between affected individuals and potentially a benign condition. Variants have been reported in >3 unrelated affected probands however their clinical presentations vary.

Classified Moderate by Aminoacidopathy GCEP on 12/12/2022- https://search.clinicalgenome.org/CCID:006299
Sources: ClinGen
Aminoacidopathy v1.95 SPR Sangavi Sivagnanasundram gene: SPR was added
gene: SPR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPR were set to 33903016
Phenotypes for gene: SPR were set to dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Review for gene: SPR was set to GREEN
Added comment: Well-established gene-disease association with reported individuals having an inborn error of amino acid metabolism.

Classified Definitive by Aminoacidopathy GCEP on 04/06/2021- https://search.clinicalgenome.org/CCID:006266
Sources: ClinGen
Aminoacidopathy v1.95 SLC7A9 Sangavi Sivagnanasundram gene: SLC7A9 was added
gene: SLC7A9 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 23532419; 16609684; 25296721; 11157794; 10471498
Phenotypes for gene: SLC7A9 were set to cystinuria MONDO:0009067
Review for gene: SLC7A9 was set to GREEN
Added comment: Established gene-disease association with reported individuals having errors in amino acid transport and metabolism.

Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006202
Sources: ClinGen
Aminoacidopathy v1.95 SLC7A7 Sangavi Sivagnanasundram gene: SLC7A7 was added
gene: SLC7A7 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 10080182; 10080183; 15776247
Phenotypes for gene: SLC7A7 were set to lysinuric protein intolerance MONDO:0009109
Review for gene: SLC7A7 was set to GREEN
Added comment: Reported in at least 8 probands all having an error in amino acid transport. LoF is the mechanism of disease.

Classified Definitive by Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:006201
Sources: ClinGen
Aminoacidopathy v1.95 SLC6A8 Sangavi Sivagnanasundram gene: SLC6A8 was added
gene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308; 16738945
Phenotypes for gene: SLC6A8 were set to creatine transporter deficiency MONDO:0010305
Review for gene: SLC6A8 was set to GREEN
Added comment: Well-established gene disease association with reported individuals having error in creatine transport.

Classified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200
Sources: ClinGen
Aminoacidopathy v1.95 SLC6A6 Sangavi Sivagnanasundram gene: SLC6A6 was added
gene: SLC6A6 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31903486; 31345061
Phenotypes for gene: SLC6A6 were set to hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777
Review for gene: SLC6A6 was set to AMBER
Added comment: 4 individuals reported with retinal degeneration while 2 (who are siblings) also reported cardiomyopathy. The proband (one of the siblings) was given oral taurine supplementation that reversed their phenotype (cardiomyopathy was reversed and the retinal degeneration was halted) (PMID: 31903486).

Classified Limited by Aminoacidopathy GCEP on 10/03/2023 - https://search.clinicalgenome.org/CCID:006199
Sources: ClinGen
Prepair 1000+ v1.9 ETFDH Lilian Downie Marked gene: ETFDH as ready
Prepair 1000+ v1.9 ETFDH Lilian Downie Gene: etfdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 ETFDH Lilian Downie Publications for gene: ETFDH were set to 31904027
Prepair 1000+ v1.8 ETFDH Lilian Downie Publications for gene: ETFDH were set to
Aminoacidopathy v1.95 SLC6A19 Sangavi Sivagnanasundram gene: SLC6A19 was added
gene: SLC6A19 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 15286787; 15286788; 18484095
Phenotypes for gene: SLC6A19 were set to Hartnup disease MONDO:0009324
Review for gene: SLC6A19 was set to GREEN
Added comment: Established gene-disease association with >10 probands reported with clinical symptoms assocation with Hartnup disease. Mechanism of disease is LoF with affected individuals having a defect in amino acid transportation.

Classified Definitive by Aminoacidopathy GCEP on 07/05/2020 - https://search.clinicalgenome.org/CCID:006196
Sources: ClinGen
Aminoacidopathy v1.95 SLC3A1 Sangavi Sivagnanasundram gene: SLC3A1 was added
gene: SLC3A1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 8054986; 16374432; 8486766
Phenotypes for gene: SLC3A1 were set to cystinuria MONDO:0009067
Review for gene: SLC3A1 was set to GREEN
Added comment: Established gene-disease association with reported individuals having biochemical abnormalities affecting cystine transportation.

Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006188
Sources: ClinGen
Aminoacidopathy v1.95 SLC38A8 Sangavi Sivagnanasundram gene: SLC38A8 was added
gene: SLC38A8 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 32744312; 24290379; 24045842; 25451601; 24290379
Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Review for gene: SLC38A8 was set to GREEN
Added comment: Reported in >5 unrelated probands with reported errors in glutamate/glutamine transport.

Classified Definitive by Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:006184
Sources: ClinGen
Aminoacidopathy v1.95 SLC36A2 Sangavi Sivagnanasundram gene: SLC36A2 was added
gene: SLC36A2 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 19033659; 26141664
Phenotypes for gene: SLC36A2 were set to iminoglycinuria MONDO:0009448
Review for gene: SLC36A2 was set to RED
Added comment: IG phenotype is due to excess urinary excretion of proline, hydroxyproline and glycine which is thought to be benign. Variants have been reported in individuals with varying phenotypes - One homozygous individual reported with an IG phenotype while some heterozygous individuals reported to have hyperglycinuria. Biochemical abnormalities result in an IG phenotype is not a common clinical feature in the reported individuals.

Classified Limitied by Aminoacidopathy GCEP on 11/04/2024 - https://search.clinicalgenome.org/CCID:006183
Sources: ClinGen
Aminoacidopathy v1.95 SLC25A15 Sangavi Sivagnanasundram gene: SLC25A15 was added
gene: SLC25A15 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 25874378
Phenotypes for gene: SLC25A15 were set to ornithine translocase deficiency MONDO:0009393 (HHH Syndrome)
Review for gene: SLC25A15 was set to GREEN
Added comment: Well established gene-disease association with reported individuals presenting with a biochemical triad of abnormalities - hyperornithinemia, hyperammonemia, and homocitrullinuria (severity of the clinical symptoms can vary).

Common variants in individuals with HHH syndrome
p.Phe188del
French Canadian Founder - NFE GrpMax AF - 0.004% (reported in 62 hets globally)

p.Arg179X
Commonly seen in Japanese patients - EAS GrpMax AF - 0.017% (reported in 26 hets globally)

Classified Definitive by Aminoacidopathy GCEP on 04/12/2019 -https://search.clinicalgenome.org/CCID:006162
Sources: ClinGen
Aminoacidopathy v1.95 SLC25A13 Sangavi Sivagnanasundram gene: SLC25A13 was added
gene: SLC25A13 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 18367750; 10369257; 19036621; 18392553; 11343053; 31607264
Phenotypes for gene: SLC25A13 were set to citrin deficiency MONDO:0016602
Review for gene: SLC25A13 was set to GREEN
Added comment: Established gene-disease association with variants reported in >10 probands with reported biochemical abnormalities. Variants in this gene have been reported in both adult onset citrullinemia type 2 but also in individuals with neonatal intrahepatic cholestasis.

Mechanism of disease is biallelic loss of function - significantly reduced or absent glutamate transport in and aspartate transport out of mitochondria depriving argininosuccinate synthetase leading to the accumulation of citrulline and ammonia.

Classified Definitive by Aminoacidopathy GCEP on 23/07/2021 - https://search.clinicalgenome.org/CCID:006161
Sources: ClinGen
Aminoacidopathy v1.95 SLC1A4 Sangavi Sivagnanasundram gene: SLC1A4 was added
gene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339
Phenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725
Review for gene: SLC1A4 was set to GREEN
Added comment: Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter.

Classified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v0.6062 B9D1 Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 32622957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.44 DDOST Achchuthan Shanmugasundram changed review comment from: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient. T; to: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient.
Congenital Disorders of Glycosylation v1.44 DDOST Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1886 DDOST Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ETFDH Lauren Rogers reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ECHS1 Lauren Rogers reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32642440; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DIS3L2 Lauren Rogers reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DBT Lauren Rogers reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP7B Andrew Coventry reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35042319 8298639 9554743 10790207 7626145 16133174 28433102; Phenotypes: Wilson disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALG3 Andrew Coventry reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009, 10581255, 15840742; Phenotypes: Congenital disorder of glycosylation, type Id; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Speech apraxia v1.0 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: GREEN; Changed publications: 29463886, 32346159, 36117209
Speech apraxia v1.0 SETD1A Thomas Scerri changed review comment from: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Kaspi et al. (2022; PMID: 36117209) report a CAS proband with a de novo SETD1A splice acceptor variant.

An independent (unpublished) in-house CAS proband has a de novo SETD1A frameshift variant.

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Marked gene: SENP7 as ready
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Classified gene: SENP7 as Green List (high evidence)
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.133 SENP7 Zornitza Stark gene: SENP7 was added
gene: SENP7 was added to Predominantly Antibody Deficiency. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 38972567
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to GREEN
Added comment: 4 individuals from three unrelated families reported with biallelic variants and neurodevelopmental abnormalities, dysmorphism, and immunodeficiency, including hypogammaglobulinaemia.
Sources: Literature
Mendeliome v1.1886 SENP7 Zornitza Stark Publications for gene: SENP7 were set to PMID: 37460201
Mendeliome v1.1885 SENP7 Zornitza Stark Classified gene: SENP7 as Green List (high evidence)
Mendeliome v1.1885 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Mendeliome v1.1884 SENP7 Zornitza Stark reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38972567, 37460201; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.29 SENP7 Zornitza Stark Publications for gene: SENP7 were set to PMID: 37460201; 38972567
Phagocyte Defects v1.28 SENP7 Zornitza Stark Publications for gene: SENP7 were set to PMID: 37460201
Phagocyte Defects v1.27 SENP7 Zornitza Stark Classified gene: SENP7 as Green List (high evidence)
Phagocyte Defects v1.27 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Phagocyte Defects v1.26 SENP7 Zornitza Stark reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1884 MYZAP Zornitza Stark changed review comment from: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model. Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature; to: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

The MYZAP gene is part of the GRINL1A complex transcription unit (CTU), or GCOM1, which also includes the downstream POLR2M gene, or GRINL1A.. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.

Transcription from an upstream promoter within the GRINL1A CTU produces 2 types of alternatively spliced transcripts: MYZAP transcripts, also called GRINL1A upstream (GUP) transcripts, which include only exons from the MYZAP gene, and GRINL1A combined (GCOM) transcripts, which include exons from both the MYZAP gene and the downstream POLR2M gene. Transcription of the POLR2M gene initiates at a downstream promoter within the GRINL1A CTU and produces alternatively spliced POLR2M transcripts, also called GRINL1A downstream (GDOWN) transcripts, which include only exons from the POLR2M gene
Sources: Literature
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark changed review comment from: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature; to: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

The MYZAP gene is part of the GRINL1A complex transcription unit (CTU), or GCOM1, which also includes the downstream POLR2M gene, or GRINL1A.. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.

Transcription from an upstream promoter within the GRINL1A CTU produces 2 types of alternatively spliced transcripts: MYZAP transcripts, also called GRINL1A upstream (GUP) transcripts, which include only exons from the MYZAP gene, and GRINL1A combined (GCOM) transcripts, which include exons from both the MYZAP gene and the downstream POLR2M gene. Transcription of the POLR2M gene initiates at a downstream promoter within the GRINL1A CTU and produces alternatively spliced POLR2M transcripts, also called GRINL1A downstream (GDOWN) transcripts, which include only exons from the POLR2M gene
Sources: Literature
Mendeliome v1.1884 MYZAP Zornitza Stark Marked gene: MYZAP as ready
Mendeliome v1.1884 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Mendeliome v1.1884 MYZAP Zornitza Stark Classified gene: MYZAP as Green List (high evidence)
Mendeliome v1.1884 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Mendeliome v1.1883 MYZAP Zornitza Stark gene: MYZAP was added
gene: MYZAP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627
Phenotypes for gene: MYZAP were set to Cardiomyopathy, dilated, 2K, MIM# 620894
Review for gene: MYZAP was set to GREEN
Added comment: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model. Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Marked gene: MYZAP as ready
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Classified gene: MYZAP as Green List (high evidence)
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.32 MYZAP Zornitza Stark gene: MYZAP was added
gene: MYZAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627
Phenotypes for gene: MYZAP were set to Cardiomyopathy, dilated, 2K, MIM# 620894
Review for gene: MYZAP was set to GREEN
Added comment: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature
Prepair 1000+ v1.7 AFF2 Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ALDH7A1 Andrew Coventry reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16491085, 17068770, 32969477, 33200442, 17721876, 19142996, 22784480, 29053735; Phenotypes: Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AK2 Andrew Coventry reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AGXT Andrew Coventry reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 2039493, 19479957, 33789010; Phenotypes: Hyperoxaluria, primary, type 1 MIM #259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Classified gene: PCBD1 as Green List (high evidence)
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.93 PAH Zornitza Stark Marked gene: PAH as ready
Aminoacidopathy v1.93 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Aminoacidopathy v1.93 PAH Zornitza Stark Classified gene: PAH as Green List (high evidence)
Aminoacidopathy v1.93 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Aminoacidopathy v1.92 OTC Zornitza Stark Marked gene: OTC as ready
Aminoacidopathy v1.92 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Aminoacidopathy v1.92 OTC Zornitza Stark Classified gene: OTC as Green List (high evidence)
Aminoacidopathy v1.92 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Aminoacidopathy v1.91 OAT Zornitza Stark Marked gene: OAT as ready
Aminoacidopathy v1.91 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Aminoacidopathy v1.91 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Aminoacidopathy v1.91 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Aminoacidopathy v1.90 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Aminoacidopathy v1.90 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Aminoacidopathy v1.90 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Aminoacidopathy v1.90 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Aminoacidopathy v1.89 NAGS Zornitza Stark Marked gene: NAGS as ready
Aminoacidopathy v1.89 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Aminoacidopathy v1.89 NAGS Zornitza Stark Classified gene: NAGS as Green List (high evidence)
Aminoacidopathy v1.89 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Aminoacidopathy v1.88 MTRR Zornitza Stark Marked gene: MTRR as ready
Aminoacidopathy v1.88 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Aminoacidopathy v1.88 MTRR Zornitza Stark Classified gene: MTRR as Green List (high evidence)
Aminoacidopathy v1.88 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Aminoacidopathy v1.87 MTR Zornitza Stark Marked gene: MTR as ready
Aminoacidopathy v1.87 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Aminoacidopathy v1.87 MTR Zornitza Stark Classified gene: MTR as Green List (high evidence)
Aminoacidopathy v1.87 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Aminoacidopathy v1.86 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Aminoacidopathy v1.86 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Aminoacidopathy v1.86 MTHFR Zornitza Stark Classified gene: MTHFR as Green List (high evidence)
Aminoacidopathy v1.86 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Aminoacidopathy v1.85 MPST Zornitza Stark Marked gene: MPST as ready
Aminoacidopathy v1.85 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Aminoacidopathy v1.85 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Aminoacidopathy v1.85 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Aminoacidopathy v1.84 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Aminoacidopathy v1.84 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Aminoacidopathy v1.84 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Aminoacidopathy v1.84 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Aminoacidopathy v1.83 MCEE Zornitza Stark Marked gene: MCEE as ready
Aminoacidopathy v1.83 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Aminoacidopathy v1.83 MCEE Zornitza Stark Classified gene: MCEE as Green List (high evidence)
Aminoacidopathy v1.83 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Aminoacidopathy v1.82 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Aminoacidopathy v1.82 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Aminoacidopathy v1.82 MAT1A Zornitza Stark Classified gene: MAT1A as Green List (high evidence)
Aminoacidopathy v1.82 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Ataxia - adult onset v1.16 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to 35411967
Prepair 1000+ v1.7 CTSD Lauren Rogers reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ABCB7 Andrew Coventry Deleted their review
Prepair 1000+ v1.7 ABCB7 Andrew Coventry changed review comment from: HGNC approved symbol/name: ABCB7
Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.; to: HGNC approved symbol/name: ABCB7
Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.
Prepair 1000+ v1.7 COQ4 Lauren Rogers reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia - adult onset v1.15 PNPT1 Chris Ciotta reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37935417; Phenotypes: Spinocerebellar ataxia 25 (MIM#608703); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.7 AGL Marta Cifuentes Ochoa reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26885414, 20301788, 35834487, 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACY1 Marta Cifuentes Ochoa reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16274666, 16465618, 17562838, 24117009, 37523070, 29653693, 26686503; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.7 AIFM1 Karina Sandoval reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Marked gene: BRCC3 as ready
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Gene: brcc3 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Publications for gene: BRCC3 were set to 21596366
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark changed review comment from: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.

PMID 33868155, additional report of affected male, with similar deletion.; to: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.

PMID 33868155, additional report of affected male, with similar deletion.

No reports of SNVs identified, including in ClinVar.
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark edited their review of gene: BRCC3: Changed rating: RED
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark reviewed gene: BRCC3: Rating: ; Mode of pathogenicity: None; Publications: 21596366, 33868155; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.195 MAP2K1 Chirag Patel Classified gene: MAP2K1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.195 MAP2K1 Chirag Patel Gene: map2k1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 BRAF Chirag Patel Classified gene: BRAF as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Classified gene: RAF1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.194 RAF1 Chirag Patel Gene: raf1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.193 PTPN11 Chirag Patel Classified gene: PTPN11 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.193 PTPN11 Chirag Patel Gene: ptpn11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.193 MAP2K1 Chirag Patel gene: MAP2K1 was added
gene: MAP2K1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to PMID: 20301557
Phenotypes for gene: MAP2K1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 615279
Review for gene: MAP2K1 was set to GREEN
gene: MAP2K1 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.192 RAF1 Chirag Patel gene: RAF1 was added
gene: RAF1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to PMID: 20301557
Phenotypes for gene: RAF1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 611554
Review for gene: RAF1 was set to GREEN
gene: RAF1 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.191 PTPN11 Chirag Patel gene: PTPN11 was added
gene: PTPN11 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to PMID: 20301557, 32737134
Phenotypes for gene: PTPN11 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 151100
Review for gene: PTPN11 was set to GREEN
gene: PTPN11 was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Deafness_IsolatedAndComplex v1.191 BRAF Chirag Patel gene: BRAF was added
gene: BRAF was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to PMID: 20301557
Phenotypes for gene: BRAF were set to Noonan Syndrome with Multiple Lentigines, OMIM # 613707
Review for gene: BRAF was set to GREEN
gene: BRAF was marked as current diagnostic
Added comment: Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: Literature
Aminoacidopathy v1.81 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Aminoacidopathy v1.81 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Marked gene: PHYKPL as ready
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Classified gene: PHYKPL as Red List (low evidence)
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Aminoacidopathy v1.79 PRODH Zornitza Stark Marked gene: PRODH as ready
Aminoacidopathy v1.79 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Aminoacidopathy v1.79 PRODH Zornitza Stark Classified gene: PRODH as Green List (high evidence)
Aminoacidopathy v1.79 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Marked gene: PRODH2 as ready
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Classified gene: PRODH2 as Red List (low evidence)
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Mendeliome v1.1882 PRODH2 Zornitza Stark Marked gene: PRODH2 as ready
Mendeliome v1.1882 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Mendeliome v1.1882 PRODH2 Zornitza Stark Classified gene: PRODH2 as Red List (low evidence)
Mendeliome v1.1882 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.76 PSPH Zornitza Stark Marked gene: PSPH as ready
Aminoacidopathy v1.76 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Aminoacidopathy v1.76 PSPH Zornitza Stark Classified gene: PSPH as Green List (high evidence)
Aminoacidopathy v1.76 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Aminoacidopathy v1.75 PTS Zornitza Stark Marked gene: PTS as ready
Aminoacidopathy v1.75 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Aminoacidopathy v1.75 PTS Zornitza Stark Classified gene: PTS as Green List (high evidence)
Aminoacidopathy v1.75 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Classified gene: PYCR1 as Green List (high evidence)
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.73 QDPR Zornitza Stark Marked gene: QDPR as ready
Aminoacidopathy v1.73 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.73 QDPR Zornitza Stark Classified gene: QDPR as Green List (high evidence)
Aminoacidopathy v1.73 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.72 SARDH Zornitza Stark Marked gene: SARDH as ready
Aminoacidopathy v1.72 SARDH Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.72 SARDH Zornitza Stark Classified gene: SARDH as Red List (low evidence)
Aminoacidopathy v1.72 SARDH Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Marked gene: SELENBP1 as ready
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Classified gene: SELENBP1 as Green List (high evidence)
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Mendeliome v1.1881 SELENBP1 Zornitza Stark Marked gene: SELENBP1 as ready
Mendeliome v1.1881 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Mendeliome v1.1881 SELENBP1 Zornitza Stark Classified gene: SELENBP1 as Green List (high evidence)
Mendeliome v1.1881 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence)
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Green List (high evidence)
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Green List (high evidence)
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Mendeliome v1.1880 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38645094
Mendeliome v1.1879 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Changed publications: 38991538
Intellectual disability syndromic and non-syndromic v0.6062 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38645094
Intellectual disability syndromic and non-syndromic v0.6061 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Changed publications: 38991538
Ataxia - adult onset v1.15 FDXR Zornitza Stark Marked gene: FDXR as ready
Ataxia - adult onset v1.15 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v1.26 FDXR Zornitza Stark Marked gene: FDXR as ready
Ataxia - paediatric v1.26 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Ataxia - paediatric v1.26 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Ataxia - paediatric v1.26 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Ataxia - paediatric v1.25 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846; 29040572; 33348459; 37046037; 37481223
Phenotypes for gene: FDXR were set to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Review for gene: FDXR was set to GREEN
Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, largely paediatric.
Sources: Literature
Ataxia - adult onset v1.15 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, 617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Ataxia - adult onset v1.14 FDXR Zornitza Stark Publications for gene: FDXR were set to
Ataxia - adult onset v1.13 FDXR Zornitza Stark Classified gene: FDXR as Amber List (moderate evidence)
Ataxia - adult onset v1.13 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v1.12 FDXR Zornitza Stark changed review comment from: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals.; to: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, though largely paediatric.
Ataxia - adult onset v1.12 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals.; Changed rating: AMBER; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Regression v0.556 FDXR Zornitza Stark Publications for gene: FDXR were set to 30250212
Regression v0.555 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Regression v0.555 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Regression v0.554 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly.; Changed rating: GREEN; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.927 FDXR Zornitza Stark Marked gene: FDXR as ready
Mitochondrial disease v0.927 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disease v0.927 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.926 FDXR Zornitza Stark Publications for gene: FDXR were set to
Mitochondrial disease v0.925 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.924 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.923 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Leigh-like presentation at the severe end of the spectrum.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Microcephaly v1.268 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM# 617717 to Auditory neuropathy and optic atrophy, MIM# 617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Microcephaly v1.267 FDXR Zornitza Stark Publications for gene: FDXR were set to 30250212
Microcephaly v1.266 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Microcephaly v1.266 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Microcephaly v1.265 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly.; Changed rating: GREEN; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mendeliome v1.1879 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mendeliome v1.1878 FDXR Zornitza Stark Publications for gene: FDXR were set to 30250212; 28965846
Intellectual disability syndromic and non-syndromic v0.6061 FDXR Zornitza Stark Publications for gene: FDXR were set to 30250212
Mendeliome v1.1877 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Intellectual disability syndromic and non-syndromic v0.6060 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717 to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717
Intellectual disability syndromic and non-syndromic v0.6059 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM# 617717 to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717
Intellectual disability syndromic and non-syndromic v0.6058 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6058 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6057 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression.; Changed rating: GREEN; Changed publications: 30250212, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887, Auditory neuropathy and optic atrophy, MIM# 617717
Prepair 1000+ v1.7 CLN5 Lauren Rogers reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD40 Lauren Rogers reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD3D Lauren Rogers reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19, severe combined MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS12 Lauren Rogers reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS1 Lauren Rogers reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20177705, 15637713; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP6V1B1 Lauren Rogers reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ARL6 Lauren Rogers reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: None
Prepair 1000+ v1.7 ANTXR2 Lauren Rogers reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALOX12B Lauren Rogers reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ADPRHL2 Karina Sandoval reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461, 35664652; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALMS1 Lauren Rogers reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AAAS Lauren Rogers reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACAD9 Karina Sandoval reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30025539, 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCA12 Karina Sandoval reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v1.6 SLC25A32 Bryony Thompson Marked gene: SLC25A32 as ready
Rhabdomyolysis and Metabolic Myopathy v1.6 SLC25A32 Bryony Thompson Gene: slc25a32 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.6 SLC25A32 Bryony Thompson Classified gene: SLC25A32 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.6 SLC25A32 Bryony Thompson Gene: slc25a32 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.5 SLC25A32 Bryony Thompson gene: SLC25A32 was added
gene: SLC25A32 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 35727412; 34764427; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive MONDO:0014795
Review for gene: SLC25A32 was set to GREEN
Added comment: 5 cases with MADD from 4 unrelated families (4 homozygotes & 1 chet) and a supporting mouse model. At least 2 cases and the mouse model had exercise intolerance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6057 RNU4-2 Zornitza Stark Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851
Intellectual disability syndromic and non-syndromic v0.6056 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851
Mendeliome v1.1877 RNU4-2 Zornitza Stark Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851
Mendeliome v1.1876 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851
Speech apraxia v1.0 Zornitza Stark promoted panel to version 1.0
Aminoacidopathy v1.66 SLC1A3 Sangavi Sivagnanasundram gene: SLC1A3 was added
gene: SLC1A3 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598
Phenotypes for gene: SLC1A3 were set to episodic ataxia type 6 MONDO:0012982
Mode of pathogenicity for gene: SLC1A3 was set to Other
Review for gene: SLC1A3 was set to GREEN
Added comment: Variants reported in 8 unrelated probands with reported errors in glutamate metabolism. Mechanism of disease varies depending on the mutation. The most severe variants (p.M128R, p.P290R, and p.T318A) appear to have gain of function mechanism.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 09/10/2020
https://search.clinicalgenome.org/CCID:006154
Sources: ClinGen
Aminoacidopathy v1.66 SLC1A2 Sangavi Sivagnanasundram gene: SLC1A2 was added
gene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933
Phenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916
Review for gene: SLC1A2 was set to GREEN
Added comment: Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020
https://search.clinicalgenome.org/CCID:006153
Sources: ClinGen
Aminoacidopathy v1.66 SLC1A1 Sangavi Sivagnanasundram gene: SLC1A1 was added
gene: SLC1A1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A1 were set to 21123949
Phenotypes for gene: SLC1A1 were set to dicarboxylic aminoaciduria MONDO:0009110
Review for gene: SLC1A1 was set to AMBER
Added comment: Reported in 2 unrelated probands along with a mouse knockout model recapitulating human phenotype.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:006152
Sources: ClinGen
Aminoacidopathy v1.66 SHMT2 Sangavi Sivagnanasundram gene: SHMT2 was added
gene: SHMT2 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733; 35398349; 29323231
Phenotypes for gene: SHMT2 were set to neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866
Review for gene: SHMT2 was set to GREEN
Added comment: Reported in 5 unrelated probands with abnormal biochemical function.

Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022
https://search.clinicalgenome.org/CCID:006136
Sources: ClinGen
Mendeliome v1.1876 SELENBP1 Sangavi Sivagnanasundram gene: SELENBP1 was added
gene: SELENBP1 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENBP1 were set to 29255262
Phenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144
Review for gene: SELENBP1 was set to GREEN
Added comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath.
Knockout mouse model recapitulating the human phenotype including the biochemical characteristics.

Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022
https://search.clinicalgenome.org/CCID:006103
Sources: ClinGen
Aminoacidopathy v1.66 SELENBP1 Sangavi Sivagnanasundram gene: SELENBP1 was added
gene: SELENBP1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENBP1 were set to 29255262
Phenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144
Review for gene: SELENBP1 was set to GREEN
Added comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath.
Knockout mouse model recapitulating the human phenotype including the biochemical characteristics.

Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022
https://search.clinicalgenome.org/CCID:006103
Sources: ClinGen
Aminoacidopathy v1.66 SARDH Sangavi Sivagnanasundram gene: SARDH was added
gene: SARDH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARDH were set to 22825317
Phenotypes for gene: SARDH were set to sarcosinemia MONDO:0010008
Review for gene: SARDH was set to RED
Added comment: The clinical phenotypes vary and sarcosinemia is considered a benign condition.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:006052
Sources: ClinGen
Aminoacidopathy v1.66 QDPR Sangavi Sivagnanasundram gene: QDPR was added
gene: QDPR was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 14114862; 3033643; 11153907; 9341885; 19099731
Phenotypes for gene: QDPR were set to dihydropteridine reductase deficiency MONDO:0009862
Review for gene: QDPR was set to GREEN
Added comment: Well established gene disease association. LoF is a mechanism of disease.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 18/06/2018
https://search.clinicalgenome.org/CCID:005939
Sources: ClinGen
Aminoacidopathy v1.66 PYCR1 Sangavi Sivagnanasundram gene: PYCR1 was added
gene: PYCR1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 19576563; 19648921
Phenotypes for gene: PYCR1 were set to autosomal recessive cutis laxa type 2B MONDO:0013051
Review for gene: PYCR1 was set to GREEN
Added comment: Established gene disease association with reported individuals having an inborn error of proline metabolism.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 21/05/2020
https://search.clinicalgenome.org/CCID:005936
Sources: ClinGen
Aminoacidopathy v1.66 PTS Sangavi Sivagnanasundram gene: PTS was added
gene: PTS was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTS were set to 22729819; 21542064; 20059486
Phenotypes for gene: PTS were set to BH4-deficient hyperphenylalaninemia A MONDO:0009863
Review for gene: PTS was set to GREEN
Added comment: Well established gene-disease association. >5 unrelated individuals reported with a biochemical phenotype. LoF is the mechanism of disease.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 22/12/2017
https://search.clinicalgenome.org/CCID:005931
Sources: ClinGen
Aminoacidopathy v1.66 PSPH Sangavi Sivagnanasundram gene: PSPH was added
gene: PSPH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 26589312, 25080166, 14673469; 27604308; 26888760; 25152457
Phenotypes for gene: PSPH were set to neurometabolic disorder due to serine deficiency MONDO:0018162
Review for gene: PSPH was set to GREEN
Added comment: Established gene disease assocation. Reported in >5 unrelated individuals with biochemical phenotypes.
Classified as Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005917
Sources: ClinGen
Aminoacidopathy v1.66 PSAT1 Sangavi Sivagnanasundram gene: PSAT1 was added
gene: PSAT1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 26610677; 12633500; 27626380; 32077105
Phenotypes for gene: PSAT1 were set to neurometabolic disorder due to serine deficiency MONDO:0018162
Review for gene: PSAT1 was set to GREEN
Added comment: Well established gene disease association with reported individuals having errors in serine deficiency. Severity of the condition depends on the residual enzyme activity.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020
https://search.clinicalgenome.org/CCID:005912
Sources: ClinGen
Mendeliome v1.1876 PRODH2 Sangavi Sivagnanasundram gene: PRODH2 was added
gene: PRODH2 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH2 were set to 27139199
Phenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374
Review for gene: PRODH2 was set to RED
Added comment: PMID: 27139199
Variants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005893
Sources: ClinGen
Aminoacidopathy v1.66 PRODH2 Sangavi Sivagnanasundram gene: PRODH2 was added
gene: PRODH2 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH2 were set to 27139199
Phenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374
Review for gene: PRODH2 was set to RED
Added comment: PMID: 27139199
Variants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005893
Sources: ClinGen
Aminoacidopathy v1.66 PRODH Sangavi Sivagnanasundram gene: PRODH was added
gene: PRODH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH were set to 12217952
Phenotypes for gene: PRODH were set to hyperprolinemia type 1 MONDO:0009400
Review for gene: PRODH was set to GREEN
Added comment: Well established gene disease association with reported individuals having an inborn error of proline metabolism.
Reported affected individuals have reported 2-10 times the normal plasma proline level.

Classified as Moderate by ClinGen Aminoacidopathy GCEP on 27/04/2021
https://search.clinicalgenome.org/CCID:005892
Sources: ClinGen
Aminoacidopathy v1.66 PHYKPL Sangavi Sivagnanasundram gene: PHYKPL was added
gene: PHYKPL was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYKPL were set to 23242558
Phenotypes for gene: PHYKPL were set to phosphohydroxylysinuria MONDO:0014008
Review for gene: PHYKPL was set to RED
Added comment: Chet individual reported with variants in this gene and a phenotype similar to EDS. This individual was not reported to any metabolic phenotype. No other reports published at this stage to support gene-disease association.

Classified as Limitied by ClinGen Aminoacidopathy GCEP on 17/11/2023
https://search.clinicalgenome.org/CCID:005792
Sources: ClinGen
Aminoacidopathy v1.66 PHGDH Sangavi Sivagnanasundram gene: PHGDH was added
gene: PHGDH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 37347880; 19235232; 24836451; 28440900; 22393170; 25913727
Phenotypes for gene: PHGDH were set to neurometabolic disorder due to serine deficiency MONDO:0018162
Review for gene: PHGDH was set to GREEN
Added comment: Established gene-disease association. >10 unrelated probands reported with an inborn error of serine deficiency. LoF is the mechanism of disease (PMID: 37347880).

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020
https://search.clinicalgenome.org/CCID:005786
Sources: ClinGen
Aminoacidopathy v1.66 PCBD1 Sangavi Sivagnanasundram gene: PCBD1 was added
gene: PCBD1 was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 19234759
Phenotypes for gene: PCBD1 were set to pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908
Review for gene: PCBD1 was set to GREEN
Added comment: Well established gene disease association with affected individuals having a transient hyperphenylalaninemia phenotype.

Mechanism of disease appears to be a defect in BH4 regeneration leading to an excess build up of phenylalanine and primapterim levels in blood, urine and tissues (PMID: 19234759)

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 27/07/2021
https://search.clinicalgenome.org/CCID:005739
Sources: ClinGen
Aminoacidopathy v1.66 PAH Sangavi Sivagnanasundram gene: PAH was added
gene: PAH was added to Aminoacidopathy. Sources: ClinGen
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 1301187, 13138177
Phenotypes for gene: PAH were set to phenylketonuria MONDO:0009861
Review for gene: PAH was set to GREEN
Added comment: Well-established gene-disease association. Affected individuals reported to have an inborn error of phenylalanine metabolism. LoF is the established mechanism of disease (PMID:1301187).

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 24/04/2020
https://search.clinicalgenome.org/CCID:005722
Sources: ClinGen
Aminoacidopathy v1.66 OTC Sangavi Sivagnanasundram gene: OTC was added
gene: OTC was added to Aminoacidopathy. Sources: Other
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OTC were set to 26059767
Phenotypes for gene: OTC were set to ornithine carbamoyltransferase deficiency MONDO:0010703
Review for gene: OTC was set to GREEN
Added comment: Well established gene-disease association where affected individuals have a deficiency in carbamoyltransferase which affects the urea cycle.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2019
https://search.clinicalgenome.org/CCID:005712
Sources: Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Marked gene: COPA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Phenotypes for gene: COPA were changed from COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease to Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414
Mendeliome v1.1876 GAS2 Zornitza Stark Marked gene: GAS2 as ready
Mendeliome v1.1876 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1876 GAS2 Zornitza Stark Classified gene: GAS2 as Amber List (moderate evidence)
Mendeliome v1.1876 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1875 GAS2 Zornitza Stark gene: GAS2 was added
gene: GAS2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2 were set to 33964205
Phenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877
Review for gene: GAS2 was set to AMBER
Added comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Marked gene: GAS2 as ready
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Classified gene: GAS2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.190 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.189 GAS2 Zornitza Stark gene: GAS2 was added
gene: GAS2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2 were set to 33964205
Phenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877
Review for gene: GAS2 was set to AMBER
Added comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model.
Sources: Literature
Deafness_Isolated v1.63 GAS2 Zornitza Stark Marked gene: GAS2 as ready
Deafness_Isolated v1.63 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.63 GAS2 Zornitza Stark Classified gene: GAS2 as Amber List (moderate evidence)
Deafness_Isolated v1.63 GAS2 Zornitza Stark Gene: gas2 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.62 GAS2 Zornitza Stark gene: GAS2 was added
gene: GAS2 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: GAS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2 were set to 33964205
Phenotypes for gene: GAS2 were set to Deafness, autosomal recessive 125, MIM#620877
Review for gene: GAS2 was set to AMBER
Added comment: Single family reported with four affected brothers and a splicing variant. Supportive mouse model.
Sources: Literature
Mendeliome v1.1874 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357 to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607
Mendeliome v1.1873 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213, NESCAV syndrome, MIM# 614255, Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - adult onset v1.11 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - adult onset v1.10 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - paediatric v1.76 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, MIM# 610357 to Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - paediatric v1.75 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607
Pulmonary Fibrosis_Interstitial Lung Disease v0.56 COPA Chirag Patel Classified gene: COPA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.56 COPA Chirag Patel Gene: copa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.55 COPA Chirag Patel gene: COPA was added
gene: COPA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COPA were set to PMID: 27048656, 30385646, 30804679, 29977900
Phenotypes for gene: COPA were set to COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease
Review for gene: COPA was set to GREEN
gene: COPA was marked as current diagnostic
Added comment: Over 10 unrelated families reported.
Well-established gene-disease association.
Sources: Expert list
Ichthyosis v1.11 SREBF2 Zornitza Stark Marked gene: SREBF2 as ready
Ichthyosis v1.11 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.11 SREBF2 Zornitza Stark Classified gene: SREBF2 as Amber List (moderate evidence)
Ichthyosis v1.11 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.10 SREBF2 Zornitza Stark gene: SREBF2 was added
gene: SREBF2 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF2 were set to 38847193
Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
Review for gene: SREBF2 was set to AMBER
Added comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6056 SREBF2 Zornitza Stark Marked gene: SREBF2 as ready
Intellectual disability syndromic and non-syndromic v0.6056 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6056 SREBF2 Zornitza Stark Classified gene: SREBF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6056 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6055 SREBF2 Zornitza Stark gene: SREBF2 was added
gene: SREBF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF2 were set to 38847193
Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
Review for gene: SREBF2 was set to AMBER
Added comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data.
Sources: Literature
Mendeliome v1.1873 SREBF2 Zornitza Stark Marked gene: SREBF2 as ready
Mendeliome v1.1873 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1873 SREBF2 Zornitza Stark Classified gene: SREBF2 as Amber List (moderate evidence)
Mendeliome v1.1873 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1872 SREBF2 Zornitza Stark gene: SREBF2 was added
gene: SREBF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF2 were set to 38847193
Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
Review for gene: SREBF2 was set to AMBER
Added comment: Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data.
Sources: Literature
Genetic Epilepsy v1.33 USP25 Zornitza Stark Classified gene: USP25 as Green List (high evidence)
Genetic Epilepsy v1.33 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.32 USP25 Zornitza Stark gene: USP25 was added
gene: USP25 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP25 were set to 38875478
Phenotypes for gene: USP25 were set to Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related
Review for gene: USP25 was set to GREEN
Added comment: PMID: 38875478 5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy. Knock-out mouse model showed increased seizure susceptibility compared to the WT. Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Literature
Mendeliome v1.1871 USP25 Zornitza Stark Marked gene: USP25 as ready
Mendeliome v1.1871 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Mendeliome v1.1871 USP25 Zornitza Stark Classified gene: USP25 as Green List (high evidence)
Mendeliome v1.1871 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Familial Generalised Epilepsy v0.14 USP25 Zornitza Stark Marked gene: USP25 as ready
Familial Generalised Epilepsy v0.14 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Familial Generalised Epilepsy v0.14 USP25 Zornitza Stark Classified gene: USP25 as Green List (high evidence)
Familial Generalised Epilepsy v0.14 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Mendeliome v1.1870 C10orf71 Zornitza Stark Marked gene: C10orf71 as ready
Mendeliome v1.1870 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Mendeliome v1.1870 C10orf71 Zornitza Stark Classified gene: C10orf71 as Green List (high evidence)
Mendeliome v1.1870 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Marked gene: C10orf71 as ready
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Classified gene: C10orf71 as Green List (high evidence)
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Mendeliome v1.1869 PSMC5 Zornitza Stark Phenotypes for gene: PSMC5 were changed from Developmental disorders to Neurodevelopmental disorder (MONDO#0700092), PSMC5-related
Mendeliome v1.1868 PSMC5 Zornitza Stark Publications for gene: PSMC5 were set to 33057194
Mendeliome v1.1867 PSMC5 Zornitza Stark Classified gene: PSMC5 as Green List (high evidence)
Mendeliome v1.1867 PSMC5 Zornitza Stark Gene: psmc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6054 PSMC5 Zornitza Stark Phenotypes for gene: PSMC5 were changed from Developmental disorders to Neurodevelopmental disorder (MONDO#0700092), PSMC5-related
Intellectual disability syndromic and non-syndromic v0.6053 PSMC5 Zornitza Stark Classified gene: PSMC5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6053 PSMC5 Zornitza Stark Gene: psmc5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.3 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Early-onset Parkinson disease v2.3 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.3 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Early-onset Parkinson disease v2.3 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.2 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Fetal anomalies v1.255 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Fetal anomalies v1.255 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.255 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Fetal anomalies v1.255 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.254 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Arthrogryposis v0.411 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Arthrogryposis v0.411 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Arthrogryposis v0.411 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Arthrogryposis v0.411 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Arthrogryposis v0.410 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Expert list
Mendeliome v1.1866 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Mendeliome v1.1866 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Mendeliome v1.1866 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Mendeliome v1.1866 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Mendeliome v1.1865 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6052 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Intellectual disability syndromic and non-syndromic v0.6052 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6052 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6052 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6051 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Regression v0.554 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Regression v0.554 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Regression v0.553 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Regression v0.553 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Regression v0.552 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Regression v0.552 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Red List (Low Evidence).
Regression v0.552 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Regression. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex.

Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Severe Combined Immunodeficiency (absent T present B cells) v1.6 POLD3 Zornitza Stark Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869
Severe Combined Immunodeficiency (absent T present B cells) v1.5 POLD3 Zornitza Stark Publications for gene: POLD3 were set to 37030525; 36395985; 27524497
Severe Combined Immunodeficiency (absent T present B cells) v1.4 POLD3 Zornitza Stark Classified gene: POLD3 as Green List (high evidence)
Severe Combined Immunodeficiency (absent T present B cells) v1.4 POLD3 Zornitza Stark Gene: pold3 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v1.3 POLD3 Zornitza Stark reviewed gene: POLD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38099988; Phenotypes: Immunodeficiency 122, MIM# 620869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1864 POLD3 Zornitza Stark Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869
Mendeliome v1.1863 POLD3 Zornitza Stark Publications for gene: POLD3 were set to 37030525; 36395985; 27524497
Mendeliome v1.1862 POLD3 Zornitza Stark Classified gene: POLD3 as Green List (high evidence)
Mendeliome v1.1862 POLD3 Zornitza Stark Gene: pold3 has been classified as Green List (High Evidence).
Mendeliome v1.1861 POLD3 Zornitza Stark reviewed gene: POLD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38099988; Phenotypes: Immunodeficiency 122, MIM# 620869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.418 ALDH1A2 Gina Ravenscroft commented on gene: ALDH1A2
Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson Marked gene: SGK3 as ready
Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson Gene: sgk3 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v1.24 SGK3 Bryony Thompson gene: SGK3 was added
gene: SGK3 was added to Calcium and Phosphate disorders. Sources: Literature
Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGK3 were set to 31821448; 21451460
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: SGK3 c.979-96T>A reported to segregate in the single family is more common in gnomAD v4.1 than expected for a dominant disease: global allele frequency of 0.004729 (0.5%, 5,882/1,243,870 alleles, 27 homozygotes in gnomAD v4.1).
A knockout mouse model had decreased bone density and increased phosphaturia.
Sources: Literature
Mendeliome v1.1861 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Mendeliome v1.1861 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Mendeliome v1.1860 TUBA4A Bryony Thompson reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38884572, 37418012; Phenotypes: Hereditary ataxia MONDO:0100309, TUBA4A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v1.24 TUBA4A Bryony Thompson Publications for gene: TUBA4A were set to 25374358; 25893256; 28069311; 38463699; 38884572; 26675813
Motor Neurone Disease v1.23 TUBA4A Bryony Thompson Publications for gene: TUBA4A were set to 28069311; 25374358; 26675813
Motor Neurone Disease v1.22 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Motor Neurone Disease v1.22 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Motor Neurone Disease v1.21 TUBA4A Bryony Thompson edited their review of gene: TUBA4A: Added comment: At least 13 probands reported with ALS or phenotype including motor neurone involvement. Limited segregation evidence and mechanism of disease not established - toxic gain of function, dominant negative, or loss of function suggested
PMID: 25374358 - 7 rare TUBA4A variants OR = 36 [95% CI: 10–210], p = 4.3 × 10−7, Pcorrected = 4.2 × 10−3 in an FALS cohort. Included 1 nonsense (W407X in last exon) and 6 missense variants. FALS cases n=635, controls n=5,510. T145P variant segregated with disease within the family, while K430N was not detected in an affected first cousin of the sequenced proband (?phenocopy). Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability - suggesting a dominant negative mechanism of disease.
PMID: 25893256 - 4 Italian sporadic ALS cases with rare TUBA4A variants (3 missense & 1 splice variant). Minigene assay demonstrates c.226+4A>G causes exon 2 skipping which is expected to a frameshift and NMD. Loss of function is not an established mechanism of ALS in relation to TUBA4A.
PMID: 28069311 - rare missense (Thr381Met) detected in 2 siblings with ALS, but both had the C9orf72 expansion
PMID: 38463699 - reduced TUBA4A protein expression in familial and sporadic ALS brain tissue. Knockout zebrafish has a motor axonopathy and motor behavior defects reflecting a motor neuron disease phenotype
PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Amyotrophy or upper limb muscular weakness in 2/12, 16.6%.; Changed rating: GREEN; Changed publications: 25374358, 25893256, 28069311, 38463699, 38884572; Changed phenotypes: amyotrophic lateral sclerosis type 22 MONDO:0014531; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v1.24 TUBA4A Bryony Thompson Publications for gene: TUBA4A were set to 28069311; 25374358; 26675813
Early-onset Dementia v1.23 TUBA4A Bryony Thompson edited their review of gene: TUBA4A: Changed phenotypes: Inherited neurodegenerative disorder MONDO:0024237, TUBA4A-related
Early-onset Dementia v1.23 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Early-onset Dementia v1.23 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Early-onset Dementia v1.22 TUBA4A Bryony Thompson reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25374358, 28069311, 35327632, 34169147, 38884572, 33760283; Phenotypes: amyotrophic lateral sclerosis type 22 MONDO:0014531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Speech apraxia v0.39 KAT6A Thomas Scerri changed review comment from: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).

Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.

St John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "


Sources: Expert list, Expert Review; to: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).

Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature.

St John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "


Sources: Expert list, Expert Review
Hereditary Spastic Paraplegia - paediatric v1.75 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Hereditary Spastic Paraplegia - paediatric v1.75 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.75 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.75 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.74 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Mode of pathogenicity for gene: TUBA4A was set to Other
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v1.10 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Hereditary Spastic Paraplegia - adult onset v1.10 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v1.10 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v1.10 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v1.9 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Mode of pathogenicity for gene: TUBA4A was set to Other
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - paediatric v1.23 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Mode of pathogenicity for gene: TUBA4A was set to Other
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson edited their review of gene: TUBA4A: Changed mode of pathogenicity: Other
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - adult onset v1.11 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6050 PSMC5 Rylee Peters reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38776958, 38293138; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PSMC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1860 PSMC5 Rylee Peters reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38776958, 38293138; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PSMC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.253 VPS50 Ain Roesley Publications for gene: VPS50 were set to PMID: 34037727
Fetal anomalies v1.252 VPS50 Ain Roesley reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.31 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Intellectual disability syndromic and non-syndromic v0.6050 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6050 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6050 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6049 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.29 VPS50 Ain Roesley commented on gene: VPS50: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Genetic Epilepsy v1.29 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v0.240 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Microcephaly v1.265 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Mendeliome v1.1860 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Fetal anomalies v1.252 SERPINA11 Ain Roesley Marked gene: SERPINA11 as ready
Fetal anomalies v1.252 SERPINA11 Ain Roesley Gene: serpina11 has been classified as Red List (Low Evidence).
Mendeliome v1.1860 SERPINA11 Ain Roesley Marked gene: SERPINA11 as ready
Mendeliome v1.1860 SERPINA11 Ain Roesley Gene: serpina11 has been classified as Red List (Low Evidence).
Fetal anomalies v1.252 SERPINA11 Ain Roesley gene: SERPINA11 was added
gene: SERPINA11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA11 were set to 38831697
Phenotypes for gene: SERPINA11 were set to pericardial effusion; pleural effusion
Review for gene: SERPINA11 was set to RED
gene: SERPINA11 was marked as current diagnostic
Added comment: 1 family with 2 fetuses.

1st fetus presented with isolated pericardial effusion and a TOP was opted.
post mortem:
mild subcutaneous edema with subtle facial dysmorphic features
small gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces

2nd fetus also presented with pleural and pericardial effusion and a TOP was opted
post mortem findings were similar to fetus#1

homozygous nonsense variant in SERPINA11 was found p.(Tyr224*)

Immunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium
Sources: Literature
Mendeliome v1.1860 SERPINA11 Ain Roesley Phenotypes for gene: SERPINA11 were changed from to pericardial effusion; pleural effusion
Mendeliome v1.1859 SERPINA11 Ain Roesley edited their review of gene: SERPINA11: Changed phenotypes: pericardial effusion, pleural effusion
Intellectual disability syndromic and non-syndromic v0.6049 PSMD11 Bryony Thompson Marked gene: PSMD11 as ready
Intellectual disability syndromic and non-syndromic v0.6049 PSMD11 Bryony Thompson Gene: psmd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6049 PSMD11 Bryony Thompson Classified gene: PSMD11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6049 PSMD11 Bryony Thompson Gene: psmd11 has been classified as Green List (High Evidence).
Mendeliome v1.1859 SERPINA11 Ain Roesley gene: SERPINA11 was added
gene: SERPINA11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA11 were set to 38831697
Review for gene: SERPINA11 was set to RED
gene: SERPINA11 was marked as current diagnostic
Added comment: 1 family with 2 fetuses.

1st fetus presented with isolated pericardial effusion and a TOP was opted.
post mortem:
mild subcutaneous edema with subtle facial dysmorphic features
small gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces

2nd fetus also presented with pleural and pericardial effusion and a TOP was opted
post mortem findings were similar to fetus#1

homozygous nonsense variant in SERPINA11 was found p.(Tyr224*)

Immunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6048 PSMD11 Bryony Thompson gene: PSMD11 was added
gene: PSMD11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMD11 were set to 38866022; 30733659
Phenotypes for gene: PSMD11 were set to Neurodevelopmental disorder, MONDO:0700092, PSMD11-related
Review for gene: PSMD11 was set to GREEN
Added comment: PMID: 38866022 - 10 unrelated children with early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity. Cognitive impairment is recapitulated in a drosophila model. Loss of function is the mechanism of disease

PMID: 30733659 - 4 probands with ID and different 17q11.2 deletions spanning PSMD11
Sources: Literature
Mendeliome v1.1858 PSMD11 Bryony Thompson Marked gene: PSMD11 as ready
Mendeliome v1.1858 PSMD11 Bryony Thompson Gene: psmd11 has been classified as Green List (High Evidence).
Mendeliome v1.1858 PSMD11 Bryony Thompson Classified gene: PSMD11 as Green List (high evidence)
Mendeliome v1.1858 PSMD11 Bryony Thompson Gene: psmd11 has been classified as Green List (High Evidence).
Mendeliome v1.1857 PSMD11 Bryony Thompson gene: PSMD11 was added
gene: PSMD11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMD11 were set to 38866022; 30733659
Phenotypes for gene: PSMD11 were set to Neurodevelopmental disorder, MONDO:0700092, PSMD11-related
Review for gene: PSMD11 was set to GREEN
Added comment: PMID: 38866022 - 10 unrelated children with early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity. Cognitive impairment is recapitulated in a drosophila model. Loss of function is the mechanism of disease

PMID: 30733659 - 4 probands with ID and different 17q11.2 deletions spanning PSMD11
Sources: Literature
Microcephaly v1.265 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Microcephaly v1.265 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Cholestasis v0.240 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Cholestasis v0.240 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Mendeliome v1.1856 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Mendeliome v1.1856 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Microcephaly v1.264 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.1855 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Cholestasis v0.239 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Cholestasis v0.239 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.1855 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6047 PAK2 Ain Roesley Marked gene: PAK2 as ready
Intellectual disability syndromic and non-syndromic v0.6047 PAK2 Ain Roesley Gene: pak2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6047 PAK2 Ain Roesley Classified gene: PAK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6047 PAK2 Ain Roesley Gene: pak2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6046 PAK2 Ain Roesley gene: PAK2 was added
gene: PAK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 33693784; 38894571; 38712026
Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome MIM#618458
Review for gene: PAK2 was set to GREEN
gene: PAK2 was marked as current diagnostic
Added comment: total of 3 families including 2 siblings with intra-familial variability

Siblings' phenotypes:
Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy.

Other 2 pro bands:
GDD, delayed motor (but normal verbal) skills, hypotonia

Missense variants with in vitro functional demonstrating reduction in PAK2 auto phosphorylation
Sources: Literature
Genetic Epilepsy v1.29 PAK2 Ain Roesley Publications for gene: PAK2 were set to 33693784
Genetic Epilepsy v1.29 PAK2 Ain Roesley Classified gene: PAK2 as Amber List (moderate evidence)
Genetic Epilepsy v1.29 PAK2 Ain Roesley Gene: pak2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 PAK2 Ain Roesley reviewed gene: PAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy v1.30 C10orf71 Sangavi Sivagnanasundram gene: C10orf71 was added
gene: C10orf71 was added to Dilated Cardiomyopathy. Sources: Other
Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C10orf71 were set to 38950288
Phenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021
Review for gene: C10orf71 was set to GREEN
Added comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals.
Further identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.

c10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant.
Sources: Other
Mendeliome v1.1855 C10orf71 Sangavi Sivagnanasundram gene: C10orf71 was added
gene: C10orf71 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C10orf71 were set to 38950288
Phenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021
Review for gene: C10orf71 was set to GREEN
Added comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals.
Further identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.

c10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant.
Sources: Other
Mendeliome v1.1855 PAK2 Ain Roesley Publications for gene: PAK2 were set to 33693784
Mendeliome v1.1854 PAK2 Ain Roesley Classified gene: PAK2 as Green List (high evidence)
Mendeliome v1.1854 PAK2 Ain Roesley Gene: pak2 has been classified as Green List (High Evidence).
Mendeliome v1.1853 PAK2 Ain Roesley reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Prepair 500+ v1.1 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1 MIM#309530
Prepair 1000+ v1.7 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1 MIM#309530
Familial Generalised Epilepsy v0.13 USP25 Sangavi Sivagnanasundram gene: USP25 was added
gene: USP25 was added to Familial Generalised Epilepsy. Sources: Other
Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP25 were set to 38875478
Phenotypes for gene: USP25 were set to USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579)
Mode of pathogenicity for gene: USP25 was set to Other
Review for gene: USP25 was set to GREEN
Added comment: PMID: 38875478
5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy and/or febrile seizures.

Knock-out mouse model showed increased seizure susceptibility compared to the WT.
Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Other
Mendeliome v1.1853 USP25 Sangavi Sivagnanasundram gene: USP25 was added
gene: USP25 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP25 were set to 38875478
Phenotypes for gene: USP25 were set to USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579)
Mode of pathogenicity for gene: USP25 was set to Other
Review for gene: USP25 was set to GREEN
Added comment: PMID: 38875478
5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy.

Knock-out mouse model showed increased seizure susceptibility compared to the WT.
Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Other
Mendeliome v1.1853 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489; distal hereditary motor neuropathy, MONDO:0018894 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489; Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy_CMT - isolated v1.48 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from distal hereditary motor neuropathy, MONDO:0018894, RTN2-related to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy_CMT - isolated v1.47 RTN2 Zornitza Stark edited their review of gene: RTN2: Changed phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Speech apraxia v0.39 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Speech apraxia v0.38 FOXP2 Thomas Scerri changed review comment from: Additional phenotypes: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).; to: Lai et al. (2001; PMID: 11586359) reported a 3-generation family with speech apraxia carrying a missense FOXP2 variant and also an independent case with a translocation affecting FOXP2.

Morison et al. (2023; PMID 36328423) "phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years)" and found "speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%)".
Speech apraxia v0.38 KDM5C Thomas Scerri changed review comment from: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review
Speech apraxia v0.38 ZBTB18 Thomas Scerri changed review comment from: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo ZBTB18 nonsense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 TAOK2 Thomas Scerri changed review comment from: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo TAOK2 missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 SPAST Thomas Scerri changed review comment from: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo SPAST missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 PURA Thomas Scerri changed review comment from: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.
Sources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.

Also several cases of "absence of speech" in the literature.

Sources: Expert list, Expert Review
Speech apraxia v0.38 PURA Thomas Scerri changed review comment from: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.
Sources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.
Sources: Expert list, Expert Review
Speech apraxia v0.38 PHF21A Thomas Scerri changed review comment from: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo PHF21A frameshift variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 KDM5C Thomas Scerri changed review comment from: First reported CAS case with a de novo frameshift HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review
Speech apraxia v0.38 SHANK3 Thomas Scerri changed review comment from: First reported CAS case with an de novo frameshift SHANK3 variant (Kaspi et al., 2022; PMID: 36117209).

Brignell et al. (2021; PMID: 33293697) report 2 cases of CAS in a cohort of individuals with Phelan-McDermid/22q13 deletion syndrome, caused by heterozygous loss of function of SHANK3.
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SHANK3 frameshift variant (Kaspi et al., 2022; PMID: 36117209).

Brignell et al. (2021; PMID: 33293697) report 2 cases of CAS in a cohort of individuals with Phelan-McDermid/22q13 deletion syndrome, caused by heterozygous loss of function of SHANK3.
Sources: Expert list, Expert Review
Speech apraxia v0.38 CHD3 Thomas Scerri changed review comment from: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).

Snijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.

Van der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.; to: First reported CAS case with a de novo CHD3 missense variant (Eising et al., 2019; PMID: 29463886).

Snijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.

Van der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.
Speech apraxia v0.38 TNRC6B Thomas Scerri edited their review of gene: TNRC6B: Changed rating: RED
Speech apraxia v0.38 TNRC6B Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a loss-of-function variant in TNRC6B.

Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying loss-of-function variants in TNRC6B.

Sources: Expert list, Expert Review
Speech apraxia v0.38 MKL2 Thomas Scerri edited their review of gene: MKL2: Changed rating: RED
Speech apraxia v0.38 GNAO1 Thomas Scerri edited their review of gene: GNAO1: Changed rating: RED
Speech apraxia v0.38 ERF Thomas Scerri edited their review of gene: ERF: Changed rating: RED
Speech apraxia v0.38 SHANK3 Thomas Scerri edited their review of gene: SHANK3: Changed rating: AMBER
Speech apraxia v0.38 ZNF142 Thomas Scerri changed review comment from: A reported CAS proband with compound heterozygous missenses ZNF142 variants (Hildebrand et al., 2020; PMID: 32345733).

Khan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous LoF or missense ZNF142 variants for which the cases have a range of speech deficits including speech apraxia in one case.

Kameyama et al. (2020, PMID: 34531528) report two brothers with biallelic LoF ZNF142 variants for which the cases have speech deficits.

Christensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.
Sources: Expert list, Expert Review; to: First reported CAS proband with compound heterozygous ZNF142 missenses variants (Hildebrand et al., 2020; PMID: 32345733).

Khan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous loss-of-function or missense ZNF142 variants for which the cases have a range of speech deficits, including speech apraxia in one case.

Kameyama et al. (2020, PMID: 34531528) report two brothers with biallelic loss-of-function ZNF142 variants for which the cases have speech deficits.

Christensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.

Sources: Expert list, Expert Review
Speech apraxia v0.38 UPF2 Thomas Scerri changed review comment from: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733).

Johnson et al. (2019; PMID: 31585809) report 3 independent cases with LoF UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing).
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo UPF2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).

Johnson et al. (2019; PMID: 31585809) report 3 independent cases with loss-of-function UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing).

Sources: Expert list, Expert Review
Speech apraxia v0.38 POGZ Thomas Scerri changed review comment from: Only reported CAS proband with a de novo missense POGZ variant (Hildebrand et al., 2020; PMID: 32345733).

Nagy et al. (2022; PMID: 35052493) reported 117 cases from a meta-analysis and found that "the most common symptoms were speech delay in 88%". This is not strong enough evidence to be supporting evidence for speech apraxia per se.
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo POGZ missense variant (Hildebrand et al., 2020; PMID: 32345733).

Nagy et al. (2022; PMID: 35052493) reported 117 cases from a meta-analysis and found that "the most common symptoms were speech delay in 88%". This is not strong enough evidence to be supporting evidence for speech apraxia per se.
Sources: Expert list, Expert Review
Speech apraxia v0.38 MEIS2 Thomas Scerri changed review comment from: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733).

Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia.
Sources: Expert Review, Expert list; to: First reported CAS proband with a MEI2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).

Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia.
Sources: Expert Review, Expert list
Speech apraxia v0.38 GNB1 Thomas Scerri changed review comment from: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733).
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo GNB1 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Sources: Expert list, Expert Review
Speech apraxia v0.38 GNAO1 Thomas Scerri changed review comment from: First reported CAS proband with a de novo missense GNAO1 variant (Hildebrand et al., 2020; PMID: 32345733).

These additional cases are less clear for speech apraxia:

Wirth et al. (2020; PMID: 35722775) reported twenty-four independent cases with a range of de novo and inherited variants, including missense and nonsense, for which a speech disorder (dysarthria) was reported for 19 individuals.

Lasa-Aranzasti et al. (2024; PMID: 38881224) report eighteen independent cases and find "all patients developed some type of nonverbal communication, but only four acquired verbal language."
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo GNAO1 missense variant (Hildebrand et al., 2020; PMID: 32345733).

These additional cases are less clear for speech apraxia:

Wirth et al. (2020; PMID: 35722775) reported twenty-four independent cases with a range of de novo and inherited variants, including missense and nonsense, for which a speech disorder (dysarthria) was reported for 19 individuals.

Lasa-Aranzasti et al. (2024; PMID: 38881224) report eighteen independent cases and find "all patients developed some type of nonverbal communication, but only four acquired verbal language."
Sources: Expert list, Expert Review
Speech apraxia v0.38 EBF3 Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically had apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases had "expressive speech disorder (3/3)" and one was reported with apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.38 EBF3 Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically has apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically had apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.38 EBF3 Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically has apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.38 EBF3 Thomas Scerri edited their review of gene: EBF3: Changed publications: 32345733, 28017372, 35340043
Speech apraxia v0.38 EBF3 Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Of these ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.38 DDX3X Thomas Scerri changed review comment from: First reported CAS proband with a de novo LoF DDX3X variant (Hildebrand et al., 2020; PMID: 32345733).

Second reported CAS proband with a de novo LoF DDX3X variant (Kaspi et al., 2022; PMID: 36117209)

Third in-house CAS proband with a de novo LoF DDX3X variant (not published).

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)".
Sources: Expert list, Expert Review; to: Hildebrand et al. (2020; PMID: 32345733) report the first CAS case has a de novo DDX3X frameshift variant.

Kaspi et al. (2022; PMID: 36117209) report a case with dysarthria and a de novo DDX3X nonsense variant.

An independent (unpublished) in-house CAS proband has a de novo DDX3X nonsense variant.

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%; 30/34)".
Sources: Expert list, Expert Review
Speech apraxia v0.38 CDK13 Thomas Scerri changed review comment from: First proband with a de novo missense CDK13 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Morison et al. (2023; PMID: 36599938) report 41 cases (with 33 novel variants) and find "most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22)."
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo CDK13 missense variant (Hildebrand et al., 2020; PMID: 32345733).

Morison et al. (2023; PMID: 36599938) report 41 cases (with 33 novel variants) and find "most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22)."
Sources: Expert list, Expert Review
Speech apraxia v0.38 ERF Thomas Scerri changed review comment from: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review; to: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (2022; PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review
Speech apraxia v0.38 ERF Thomas Scerri changed review comment from: First two reported CAS cases with a nonsense ERF variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review; to: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review
Speech apraxia v0.38 DIP2C Thomas Scerri changed review comment from: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209).

Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia.
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo DIP2C splice acceptor variant (Kaspi et al., 2022; PMID: 36117209).

Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.38 BRPF1 Thomas Scerri changed review comment from: First reported CAS proband with a de novo missense BRPF1 variant (Kaspi et al., 2022; PMID: 36117209).

Yan et al. (2017; PMID: 27939640) reported 10 independent cases with de novo or inherited BRPF1 variants and with a range of speech and language deficits, including one proband with speech apraxia (proband 4, Table S1).

Morison et al. (2024; PMID: 38346666) report 15 new cases with mostly de novo BRPF1 variants and a range of speech deficits, including 3 specifically with speech apraxia.
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo BRPF1 missense variant (Kaspi et al., 2022; PMID: 36117209).

Yan et al. (2017; PMID: 27939640) reported 10 independent cases with de novo or inherited BRPF1 variants and with a range of speech and language deficits, including one proband with speech apraxia (proband 4, Table S1).

Morison et al. (2024; PMID: 38346666) report 15 new cases with mostly de novo BRPF1 variants and a range of speech deficits, including 3 specifically with speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.38 ARHGEF9 Thomas Scerri changed review comment from: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo ARHGEF9 nonsense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 ZFHX4 Thomas Scerri changed review comment from: First proband with splice acceptor ZFHX4 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fontana et al. (2021; PMID: 34461323) report a similar splice region variant in ZFHX4 for a proband with a neuropsychological phenotype, and summarise other probands with deletions or point mutations and associated phenotypes. Only one of these has a recorded speech phenotype. Overall this paper doesn't add strong evidence for a link between speech apraxia and ZFHX4.
Sources: Expert list, Expert Review; to: First reported CAS case with a ZFHX4 splice acceptor variant (Eising et al., 2019; PMID: 29463886)

Fontana et al. (2021; PMID: 34461323) report a similar splice region variant in ZFHX4 for a proband with a neuropsychological phenotype, and summarise other probands with deletions or point mutations and associated phenotypes. Only one of these has a recorded speech phenotype. Overall this paper doesn't add strong evidence for a link between speech apraxia and ZFHX4.
Sources: Expert list, Expert Review
Speech apraxia v0.38 WDR5 Thomas Scerri changed review comment from: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering." However, only 1 was diagnosed with speech dyspraxia.

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)

Snijders Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering." However, only 1 was diagnosed with speech dyspraxia.

Sources: Expert list, Expert Review
Speech apraxia v0.38 WDR5 Thomas Scerri edited their review of gene: WDR5: Changed rating: AMBER
Speech apraxia v0.38 WDR5 Thomas Scerri changed review comment from: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering."
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering." However, only 1 was diagnosed with speech dyspraxia.

Sources: Expert list, Expert Review
Speech apraxia v0.38 TNRC6B Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review
Speech apraxia v0.38 TNRC6B Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review
Speech apraxia v0.38 WDR5 Thomas Scerri changed review comment from: First proband with a de novo missense WDR5 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering."
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering."
Sources: Expert list, Expert Review
Speech apraxia v0.38 TNRC6B Thomas Scerri changed review comment from: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.
Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.

Sources: Expert list, Expert Review
Speech apraxia v0.38 SETD1A Thomas Scerri changed review comment from: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Speech apraxia v0.38 SETD1B Thomas Scerri changed review comment from: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1B missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 SETBP1 Thomas Scerri changed review comment from: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.".
Sources: Expert list, Expert Review; to: First reported CAS case with a SETBP1 frameshift variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with loss-of-function SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%; 25/31) being the most common diagnosis.".
Sources: Expert list, Expert Review
Cerebral Palsy v1.356 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to PMID: 33528536; PMID: 38693247
Cerebral Palsy v1.355 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Cerebral Palsy v1.355 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.355 ZIC2 Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
Cerebral Palsy v1.355 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Speech apraxia v0.38 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Speech apraxia v0.38 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Speech apraxia v0.38 ZBTB18 Zornitza Stark Classified gene: ZBTB18 as Red List (low evidence)
Speech apraxia v0.38 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Speech apraxia v0.37 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Speech apraxia v0.37 TRIP12 Zornitza Stark Gene: trip12 has been classified as Red List (Low Evidence).
Speech apraxia v0.37 TRIP12 Zornitza Stark Classified gene: TRIP12 as Red List (low evidence)
Speech apraxia v0.37 TRIP12 Zornitza Stark Gene: trip12 has been classified as Red List (Low Evidence).
Speech apraxia v0.36 TAOK2 Zornitza Stark Marked gene: TAOK2 as ready
Speech apraxia v0.36 TAOK2 Zornitza Stark Gene: taok2 has been classified as Red List (Low Evidence).
Speech apraxia v0.36 TAOK2 Zornitza Stark Classified gene: TAOK2 as Red List (low evidence)
Speech apraxia v0.36 TAOK2 Zornitza Stark Gene: taok2 has been classified as Red List (Low Evidence).
Speech apraxia v0.35 SPAST Zornitza Stark Marked gene: SPAST as ready
Speech apraxia v0.35 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Speech apraxia v0.35 SPAST Zornitza Stark Classified gene: SPAST as Red List (low evidence)
Speech apraxia v0.35 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Speech apraxia v0.34 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Speech apraxia v0.34 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Speech apraxia v0.34 SHANK3 Zornitza Stark Classified gene: SHANK3 as Green List (high evidence)
Speech apraxia v0.34 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Speech apraxia v0.33 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Speech apraxia v0.33 SETD1B Zornitza Stark Gene: setd1b has been classified as Red List (Low Evidence).
Speech apraxia v0.33 SETD1B Zornitza Stark Classified gene: SETD1B as Red List (low evidence)
Speech apraxia v0.33 SETD1B Zornitza Stark Gene: setd1b has been classified as Red List (Low Evidence).
Mendeliome v1.1852 RBFOX3 Zornitza Stark Marked gene: RBFOX3 as ready
Mendeliome v1.1852 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1852 RBFOX3 Zornitza Stark Classified gene: RBFOX3 as Amber List (moderate evidence)
Mendeliome v1.1852 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1851 RBFOX3 Zornitza Stark gene: RBFOX3 was added
gene: RBFOX3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models.
Sources: Literature
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Marked gene: RBFOX3 as ready
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Classified gene: RBFOX3 as Amber List (moderate evidence)
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.27 RBFOX3 Zornitza Stark gene: RBFOX3 was added
gene: RBFOX3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models.
Sources: Literature
Speech apraxia v0.32 RBFOX3 Zornitza Stark Marked gene: RBFOX3 as ready
Speech apraxia v0.32 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.32 RBFOX3 Zornitza Stark Classified gene: RBFOX3 as Amber List (moderate evidence)
Speech apraxia v0.32 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1850 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Mendeliome v1.1849 GRXCR2 Zornitza Stark Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1848 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Green List (high evidence)
Mendeliome v1.1848 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Green List (High Evidence).
Mendeliome v1.1847 GRXCR2 Zornitza Stark edited their review of gene: GRXCR2: Added comment: PMID:33528103 reported another family and an unrelated individual from Cameroon with a different homozygous variant (c.251delC/ p.Ile85SerfsTer33).; Changed rating: GREEN; Changed publications: 24619944, 33528103
Deafness_Isolated v1.61 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_Isolated v1.60 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Green List (high evidence)
Deafness_Isolated v1.60 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Green List (High Evidence).
Deafness_Isolated v1.59 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528103; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.188 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_IsolatedAndComplex v1.187 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.187 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Green List (High Evidence).
Speech apraxia v0.31 MKL2 Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112).
Sources: Expert list, Expert Review; to: First reported CAS case with a MKL2 splice acceptor variant (Eising et al., 2019; PMID: 29463886). However, it is only predicted to be likely pathogenic and is observed 500+ times in gnomad v4 and has a low variant quality score.

Andrews et al. (2023; PMID: 37013900) identify two cases with de novo MKL2 missense variants (p.R104G and p.A91P) with reported gain of function. One case is reported with apraxia and the other with speech apraxia (Table 1).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112).
Sources: Expert list, Expert Review
Speech apraxia v0.31 KAT6A Thomas Scerri changed review comment from: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).

Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with CHD3 variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.

St John et al. (2022; PMID: 35892268) examined 49 cases and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "


Sources: Expert list, Expert Review; to: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).

Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.

St John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "


Sources: Expert list, Expert Review
Speech apraxia v0.31 KAT6A Thomas Scerri changed review comment from: Additional phenotypes: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).

Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with CHD3 variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.

St John et al. (2022; PMID: 35892268) examined 49 cases and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "


Sources: Expert list, Expert Review
Speech apraxia v0.31 CHD3 Thomas Scerri changed review comment from: Additional phenotypes: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).; to: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).

Snijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.

Van der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.
Cerebral Palsy v1.354 ZIC2 Clare van Eyk gene: ZIC2 was added
gene: ZIC2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC2 were set to PMID: 38553553
Phenotypes for gene: ZIC2 were set to Holoprosencephaly, MIM#609637
Review for gene: ZIC2 was set to RED
Added comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553).
Sources: Literature
Cerebral Palsy v1.354 ZDHHC9 Clare van Eyk edited their review of gene: ZDHHC9: Added comment: Additional hemizygous male (maternally inherited) with splice variant described in WGS study of clinically confirmed CP (PMID: 38553553).; Changed publications: PMID: 33528536, PMID: 38693247, PMID: 38553553
Speech apraxia v0.31 ZBTB18 Thomas Scerri gene: ZBTB18 was added
gene: ZBTB18 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to 36117209
Phenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM# 612337
Review for gene: ZBTB18 was set to RED
Added comment: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 TRIP12 Thomas Scerri gene: TRIP12 was added
gene: TRIP12 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIP12 were set to 36117209
Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM# 617752
Review for gene: TRIP12 was set to RED
Added comment: First reported CAS case with a de novo exon duplication of TRIP12 (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 TAOK2 Thomas Scerri gene: TAOK2 was added
gene: TAOK2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 36117209
Phenotypes for gene: TAOK2 were set to Neurodevelopmental disorder (MONDO:0700092), TAOK2-related
Review for gene: TAOK2 was set to RED
Added comment: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 SPAST Thomas Scerri gene: SPAST was added
gene: SPAST was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPAST were set to 36117209
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Review for gene: SPAST was set to RED
Added comment: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 SHANK3 Thomas Scerri gene: SHANK3 was added
gene: SHANK3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 36117209; 33293697
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232
Review for gene: SHANK3 was set to GREEN
Added comment: First reported CAS case with an de novo frameshift SHANK3 variant (Kaspi et al., 2022; PMID: 36117209).

Brignell et al. (2021; PMID: 33293697) report 2 cases of CAS in a cohort of individuals with Phelan-McDermid/22q13 deletion syndrome, caused by heterozygous loss of function of SHANK3.
Sources: Expert list, Expert Review
Speech apraxia v0.31 SETD1B Thomas Scerri gene: SETD1B was added
gene: SETD1B was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1B were set to 36117209
Phenotypes for gene: SETD1B were set to Intellectual developmental disorder with seizures and language delay, MIM# 619000
Review for gene: SETD1B was set to RED
Added comment: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 RBFOX3 Thomas Scerri gene: RBFOX3 was added
gene: RBFOX3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: First reported CAS case with a paternally inherited nonsense RBFOX3 variant (Kaspi et al., 2022; PMID: 36117209). The carrier father was also affected.

Lal et al. (2013; PMID: 24039908) report two cases with nonsense RBFOX3 variants, both with initial speech or language delay, and one of which with "Moderate developmetal delay, delayed speech development, mild oral dyspraxia".
Sources: Expert list, Expert Review
Cerebral Palsy v1.354 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Cerebral Palsy v1.354 PDE10A Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.354 PDE10A Zornitza Stark Classified gene: PDE10A as Red List (low evidence)
Cerebral Palsy v1.354 PDE10A Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.353 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Cerebral Palsy v1.353 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Cerebral Palsy v1.352 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Cerebral Palsy v1.352 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.352 PHKA2 Zornitza Stark Classified gene: PHKA2 as Red List (low evidence)
Cerebral Palsy v1.352 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.351 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Cerebral Palsy v1.351 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.351 PIK3R2 Zornitza Stark Classified gene: PIK3R2 as Amber List (moderate evidence)
Cerebral Palsy v1.351 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.350 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Cerebral Palsy v1.350 SOX2 Zornitza Stark Gene: sox2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.350 SOX2 Zornitza Stark Classified gene: SOX2 as Red List (low evidence)
Cerebral Palsy v1.350 SOX2 Zornitza Stark Gene: sox2 has been classified as Red List (Low Evidence).
Speech apraxia v0.31 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Speech apraxia v0.31 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Red List (Low Evidence).
Speech apraxia v0.31 HNRNPK Zornitza Stark Classified gene: HNRNPK as Red List (low evidence)
Speech apraxia v0.31 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Red List (Low Evidence).
Speech apraxia v0.30 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Speech apraxia v0.30 KDM5C Zornitza Stark Gene: kdm5c has been classified as Red List (Low Evidence).
Speech apraxia v0.30 KDM5C Zornitza Stark Classified gene: KDM5C as Red List (low evidence)
Speech apraxia v0.30 KDM5C Zornitza Stark Gene: kdm5c has been classified as Red List (Low Evidence).
Speech apraxia v0.29 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Speech apraxia v0.29 PHF21A Zornitza Stark Gene: phf21a has been classified as Red List (Low Evidence).
Speech apraxia v0.29 PHF21A Zornitza Stark Classified gene: PHF21A as Red List (low evidence)
Speech apraxia v0.29 PHF21A Zornitza Stark Gene: phf21a has been classified as Red List (Low Evidence).
Speech apraxia v0.28 PURA Zornitza Stark Marked gene: PURA as ready
Speech apraxia v0.28 PURA Zornitza Stark Gene: pura has been classified as Red List (Low Evidence).
Speech apraxia v0.28 PURA Zornitza Stark Classified gene: PURA as Red List (low evidence)
Speech apraxia v0.28 PURA Zornitza Stark Gene: pura has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.93 ERG Zornitza Stark Classified gene: ERG as Green List (high evidence)
Bone Marrow Failure v1.93 ERG Zornitza Stark Gene: erg has been classified as Green List (High Evidence).
Cerebral Palsy v1.349 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Cerebral Palsy v1.349 TRIP12 Zornitza Stark Gene: trip12 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.349 TRIP12 Zornitza Stark Classified gene: TRIP12 as Red List (low evidence)
Cerebral Palsy v1.349 TRIP12 Zornitza Stark Gene: trip12 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.348 TRIP12 Clare van Eyk gene: TRIP12 was added
gene: TRIP12 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIP12 were set to PMID: 36747006
Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM#617752
Review for gene: TRIP12 was set to RED
Added comment: Single individual with de novo splice variant described in WGS study of clinically confirmed CP (PMID: 38553553). Motor delays are reported to be common in TRIP12 syndrome.
Sources: Literature
Bone Marrow Failure v1.92 ERG Hamish Scott reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: cytopenia, Thrombocytopenia, MDS, Lymphedema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early-onset Dementia v1.22 GBA Lauren Rogers reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36084847; Phenotypes: {Lewy body dementia, susceptibility to} (MIM# 127750); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Speech apraxia v0.27 PURA Thomas Scerri edited their review of gene: PURA: Changed rating: RED
Speech apraxia v0.27 PURA Thomas Scerri gene: PURA was added
gene: PURA was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PURA were set to 36117209
Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158
Added comment: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.
Sources: Expert list, Expert Review
Speech apraxia v0.27 PHF21A Thomas Scerri gene: PHF21A was added
gene: PHF21A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 36117209
Phenotypes for gene: PHF21A were set to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Review for gene: PHF21A was set to RED
Added comment: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.27 KDM5C Thomas Scerri gene: KDM5C was added
gene: KDM5C was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 36117209; 36434256
Phenotypes for gene: KDM5C were set to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534
Review for gene: KDM5C was set to RED
Added comment: First reported CAS case with a de novo frameshift HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review
Speech apraxia v0.27 HNRNPK Thomas Scerri gene: HNRNPK was added
gene: HNRNPK was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 36117209
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, MIM# 616580
Review for gene: HNRNPK was set to RED
Added comment: First reported CAS case with a de novo nonsense HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Cerebral Palsy v1.348 SOX2 Clare van Eyk gene: SOX2 was added
gene: SOX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to PMID: 38553553
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900
Review for gene: SOX2 was set to RED
Added comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553). SOX2 disorders are associated with a spectrum of phenotypes which frequently include psychomotor delay, hypotonia, dystonia (including status dystonicus), spastic diplegia/quadriplegia.
Sources: Literature
Cerebral Palsy v1.348 PIK3R2 Clare van Eyk gene: PIK3R2 was added
gene: PIK3R2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to PMID: 38553553
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387
Mode of pathogenicity for gene: PIK3R2 was set to Other
Review for gene: PIK3R2 was set to AMBER
Added comment: Single individual with de novo heterozygous p.G373R variant described in WGS study of clinically confirmed CP (PMID: 38553553). This variant is reported multiple times in ClinVar and literature as a recurrent pathogenic activating mutation. Additional case in literature with same variant and spastic hemiplegia (PMID: 26860062). Constitutional and mosaic mutations in PIK3R2 are associated with a range of developmental brain disorders.
Sources: Literature
Cerebral Palsy v1.348 PHKA2 Clare van Eyk gene: PHKA2 was added
gene: PHKA2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA2 were set to PMID: 38553553
Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa, 306000
Review for gene: PHKA2 was set to RED
Added comment: Single individual with de novo hemizygous variant described in WGS study of clinically confirmed CP (PMID: 38553553). Variant has multiple entries in ClinVar - pathogenic/likely pathogenic. GSD9A is primarily associated with liver dysfunction, however dysregulation of glucose metabolism can cause damage to the CNS.
Sources: Literature
Cerebral Palsy v1.348 PHIP Clare van Eyk edited their review of gene: PHIP: Added comment: Additional individual with a pathogenic de novo frameshift insertion described in WGS study of clinically confirmed CP (PMID: 38553553).; Changed rating: GREEN; Changed publications: PMID: 38693247, PMID:33528536, PMID: 38553553
Cerebral Palsy v1.348 PDE10A Clare van Eyk gene: PDE10A was added
gene: PDE10A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PDE10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to PMID: 38553553
Phenotypes for gene: PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922
Review for gene: PDE10A was set to RED
Added comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553).

Biallelic variants have been reported to cause a hyperkinetic movement disorder with onset in infancy (PMID: 27058446).
Sources: Literature
Cerebral Palsy v1.348 MEF2C Clare van Eyk reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38553553; Phenotypes: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.348 KDM3B Clare van Eyk gene: KDM3B was added
gene: KDM3B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 38553553
Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome, MIM#618846
Review for gene: KDM3B was set to RED
Added comment: Single individual with de novo likely pathogenic variant described in WGS study of clinically confirmed CP (PMID: 38553553).
Sources: Literature
Cerebral Palsy v1.348 GATAD2B Clare van Eyk edited their review of gene: GATAD2B: Added comment: Additional case with de novo heterozygous LP variant described in WGS study of clinically confirmed CP (PMID: 38553553). Same variant previously reported pathogenic from clinical testing in ClinVar, but no phenotypic data.; Changed publications: PMID: 38693247, PMID: 38553553
Cerebral Palsy v1.348 ERLIN2 Clare van Eyk gene: ERLIN2 was added
gene: ERLIN2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to PMID: 38553553
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18A, autosomal dominant, MIM#620512; Spastic paraplegia 18B, autosomal recessive, MIM#611225
Review for gene: ERLIN2 was set to RED
Added comment: Single individual with homozygous frameshift insertion in ERLIN2 described in WGS study of clinically confirmed CP (PMID: 38553553). Both monoallelic and biallelic variants have been reported to cause hereditary spastic paraplegia.
Sources: Literature
Mendeliome v1.1847 THBS2 Zornitza Stark Phenotypes for gene: THBS2 were changed from {Lumbar disc herniation, susceptibility to} 603932; connective tissue disorder MONDO:0003900, THBS2-related to Ehlers-Danlos syndrome, classic type, 3, MIM# 620865
Aortopathy_Connective Tissue Disorders v1.85 THBS2 Zornitza Stark Phenotypes for gene: THBS2 were changed from connective tissue disorder MONDO:0003900, THBS2-related to Ehlers-Danlos syndrome, classic type, 3, MIM# 620865
Aortopathy_Connective Tissue Disorders v1.84 THBS2 Zornitza Stark reviewed gene: THBS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 3, MIM# 620865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.186 GRXCR2 Achchuthan Shanmugasundram reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528103; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.348 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Cerebral Palsy v1.348 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.348 LZTR1 Zornitza Stark Classified gene: LZTR1 as Red List (low evidence)
Cerebral Palsy v1.348 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.347 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Cerebral Palsy v1.347 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.347 MCCC2 Zornitza Stark Classified gene: MCCC2 as Amber List (moderate evidence)
Cerebral Palsy v1.347 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.346 MED12 Zornitza Stark Marked gene: MED12 as ready
Cerebral Palsy v1.346 MED12 Zornitza Stark Gene: med12 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.346 MED12 Zornitza Stark Publications for gene: MED12 were set to PMID: 38693247
Cerebral Palsy v1.345 MED12 Zornitza Stark Classified gene: MED12 as Amber List (moderate evidence)
Cerebral Palsy v1.345 MED12 Zornitza Stark Gene: med12 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.344 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Cerebral Palsy v1.344 MMACHC Zornitza Stark Gene: mmachc has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.344 MMACHC Zornitza Stark Classified gene: MMACHC as Amber List (moderate evidence)
Cerebral Palsy v1.344 MMACHC Zornitza Stark Gene: mmachc has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.343 MUT Zornitza Stark Marked gene: MUT as ready
Cerebral Palsy v1.343 MUT Zornitza Stark Gene: mut has been classified as Red List (Low Evidence).
Cerebral Palsy v1.343 MUT Zornitza Stark Classified gene: MUT as Red List (low evidence)
Cerebral Palsy v1.343 MUT Zornitza Stark Gene: mut has been classified as Red List (Low Evidence).
Cerebral Palsy v1.342 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Cerebral Palsy v1.342 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.342 MYO9A Zornitza Stark Classified gene: MYO9A as Red List (low evidence)
Cerebral Palsy v1.342 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.341 PCLO Zornitza Stark Marked gene: PCLO as ready
Cerebral Palsy v1.341 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Cerebral Palsy v1.341 PCLO Zornitza Stark Classified gene: PCLO as Red List (low evidence)
Cerebral Palsy v1.341 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Cerebral Palsy v1.340 PIDD1 Zornitza Stark Marked gene: PIDD1 as ready
Cerebral Palsy v1.340 PIDD1 Zornitza Stark Gene: pidd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.340 PIDD1 Zornitza Stark Classified gene: PIDD1 as Red List (low evidence)
Cerebral Palsy v1.340 PIDD1 Zornitza Stark Gene: pidd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.339 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Cerebral Palsy v1.339 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.339 LRP2 Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
Cerebral Palsy v1.339 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.338 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Cerebral Palsy v1.338 LAMA1 Zornitza Stark Gene: lama1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.338 LAMA1 Zornitza Stark Classified gene: LAMA1 as Red List (low evidence)
Cerebral Palsy v1.338 LAMA1 Zornitza Stark Gene: lama1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.337 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Cerebral Palsy v1.337 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.337 HCFC1 Zornitza Stark Classified gene: HCFC1 as Amber List (moderate evidence)
Cerebral Palsy v1.337 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.336 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Cerebral Palsy v1.336 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.336 FGD1 Zornitza Stark Classified gene: FGD1 as Red List (low evidence)
Cerebral Palsy v1.336 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.335 EBP Zornitza Stark Marked gene: EBP as ready
Cerebral Palsy v1.335 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Cerebral Palsy v1.335 EBP Zornitza Stark Classified gene: EBP as Red List (low evidence)
Cerebral Palsy v1.335 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Cerebral Palsy v1.334 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Cerebral Palsy v1.334 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.334 CCDC22 Zornitza Stark Classified gene: CCDC22 as Red List (low evidence)
Cerebral Palsy v1.334 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence).
Speech apraxia v0.27 ERF Zornitza Stark Marked gene: ERF as ready
Speech apraxia v0.27 ERF Zornitza Stark Gene: erf has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.27 ERF Zornitza Stark Classified gene: ERF as Amber List (moderate evidence)
Speech apraxia v0.27 ERF Zornitza Stark Gene: erf has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.26 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Speech apraxia v0.26 ZNF142 Zornitza Stark Gene: znf142 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.26 ZNF142 Zornitza Stark Classified gene: ZNF142 as Amber List (moderate evidence)
Speech apraxia v0.26 ZNF142 Zornitza Stark Gene: znf142 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.25 ZFHX4 Zornitza Stark Marked gene: ZFHX4 as ready
Speech apraxia v0.25 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Red List (Low Evidence).
Speech apraxia v0.25 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Red List (low evidence)
Speech apraxia v0.25 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Red List (Low Evidence).
Speech apraxia v0.24 WDR5 Zornitza Stark Marked gene: WDR5 as ready
Speech apraxia v0.24 WDR5 Zornitza Stark Gene: wdr5 has been classified as Green List (High Evidence).
Speech apraxia v0.24 WDR5 Zornitza Stark Classified gene: WDR5 as Green List (high evidence)
Speech apraxia v0.24 WDR5 Zornitza Stark Gene: wdr5 has been classified as Green List (High Evidence).
Speech apraxia v0.23 UPF2 Zornitza Stark Marked gene: UPF2 as ready
Speech apraxia v0.23 UPF2 Zornitza Stark Gene: upf2 has been classified as Red List (Low Evidence).
Speech apraxia v0.23 UPF2 Zornitza Stark Classified gene: UPF2 as Red List (low evidence)
Speech apraxia v0.23 UPF2 Zornitza Stark Gene: upf2 has been classified as Red List (Low Evidence).
Speech apraxia v0.22 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Speech apraxia v0.22 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.22 TNRC6B Zornitza Stark Classified gene: TNRC6B as Amber List (moderate evidence)
Speech apraxia v0.22 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.21 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Speech apraxia v0.21 SETD1A Zornitza Stark Gene: setd1a has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.21 SETD1A Zornitza Stark Classified gene: SETD1A as Amber List (moderate evidence)
Speech apraxia v0.21 SETD1A Zornitza Stark Gene: setd1a has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.20 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Speech apraxia v0.20 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Speech apraxia v0.20 SETBP1 Zornitza Stark Classified gene: SETBP1 as Green List (high evidence)
Speech apraxia v0.20 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Speech apraxia v0.19 POGZ Zornitza Stark Marked gene: POGZ as ready
Speech apraxia v0.19 POGZ Zornitza Stark Gene: pogz has been classified as Red List (Low Evidence).
Speech apraxia v0.19 POGZ Zornitza Stark Classified gene: POGZ as Red List (low evidence)
Speech apraxia v0.19 POGZ Zornitza Stark Gene: pogz has been classified as Red List (Low Evidence).
Speech apraxia v0.18 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Speech apraxia v0.18 MEIS2 Zornitza Stark Gene: meis2 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.18 MEIS2 Zornitza Stark Classified gene: MEIS2 as Amber List (moderate evidence)
Speech apraxia v0.18 MEIS2 Zornitza Stark Gene: meis2 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.17 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Speech apraxia v0.17 GNB1 Zornitza Stark Gene: gnb1 has been classified as Red List (Low Evidence).
Speech apraxia v0.17 GNB1 Zornitza Stark Classified gene: GNB1 as Red List (low evidence)
Speech apraxia v0.17 GNB1 Zornitza Stark Gene: gnb1 has been classified as Red List (Low Evidence).
Speech apraxia v0.16 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Speech apraxia v0.16 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.16 GNAO1 Zornitza Stark Classified gene: GNAO1 as Amber List (moderate evidence)
Speech apraxia v0.16 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.15 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Speech apraxia v0.15 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Speech apraxia v0.15 EBF3 Zornitza Stark Classified gene: EBF3 as Green List (high evidence)
Speech apraxia v0.15 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Speech apraxia v0.14 DIP2C Zornitza Stark Marked gene: DIP2C as ready
Speech apraxia v0.14 DIP2C Zornitza Stark Gene: dip2c has been classified as Green List (High Evidence).
Speech apraxia v0.14 DIP2C Zornitza Stark Classified gene: DIP2C as Green List (high evidence)
Speech apraxia v0.14 DIP2C Zornitza Stark Gene: dip2c has been classified as Green List (High Evidence).
Speech apraxia v0.13 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Speech apraxia v0.13 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Speech apraxia v0.13 DDX3X Zornitza Stark Classified gene: DDX3X as Green List (high evidence)
Speech apraxia v0.13 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Speech apraxia v0.12 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Speech apraxia v0.12 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Speech apraxia v0.12 CDK13 Zornitza Stark Classified gene: CDK13 as Green List (high evidence)
Speech apraxia v0.12 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Speech apraxia v0.11 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Speech apraxia v0.11 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Speech apraxia v0.11 BRPF1 Zornitza Stark Classified gene: BRPF1 as Green List (high evidence)
Speech apraxia v0.11 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Speech apraxia v0.10 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Speech apraxia v0.10 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Speech apraxia v0.10 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Speech apraxia v0.9 ARHGEF9 Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence)
Speech apraxia v0.9 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.333 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Cerebral Palsy v1.333 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.333 OPHN1 Zornitza Stark Classified gene: OPHN1 as Red List (low evidence)
Cerebral Palsy v1.333 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.332 PIGA Zornitza Stark Publications for gene: PIGA were set to 33528536; 24706016
Cerebral Palsy v1.331 PLP1 Zornitza Stark Publications for gene: PLP1 were set to 33528536; 25280894; 34816117
Cerebral Palsy v1.330 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Cerebral Palsy v1.330 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.330 PHF6 Zornitza Stark Classified gene: PHF6 as Red List (low evidence)
Cerebral Palsy v1.330 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.329 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Cerebral Palsy v1.329 POLA1 Zornitza Stark Gene: pola1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.329 POLA1 Zornitza Stark Classified gene: POLA1 as Amber List (moderate evidence)
Cerebral Palsy v1.329 POLA1 Zornitza Stark Gene: pola1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.328 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Cerebral Palsy v1.328 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.328 PQBP1 Zornitza Stark Classified gene: PQBP1 as Red List (low evidence)
Cerebral Palsy v1.328 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.327 TAF1 Zornitza Stark Publications for gene: TAF1 were set to 26637982; 33528536; 17273961
Cerebral Palsy v1.326 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Cerebral Palsy v1.326 THOC2 Zornitza Stark Added comment: Comment when marking as ready: Amber rating due to lack of phenotypic data in the large cohort study.
Cerebral Palsy v1.326 THOC2 Zornitza Stark Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.326 THOC2 Zornitza Stark Classified gene: THOC2 as Amber List (moderate evidence)
Cerebral Palsy v1.326 THOC2 Zornitza Stark Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.325 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Cerebral Palsy v1.325 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.325 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Amber List (moderate evidence)
Cerebral Palsy v1.325 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.324 B4GALNT1 Zornitza Stark Classified gene: B4GALNT1 as Amber List (moderate evidence)
Cerebral Palsy v1.324 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.323 RARB Zornitza Stark Marked gene: RARB as ready
Cerebral Palsy v1.323 RARB Zornitza Stark Gene: rarb has been classified as Red List (Low Evidence).
Cerebral Palsy v1.323 RARB Zornitza Stark Classified gene: RARB as Red List (low evidence)
Cerebral Palsy v1.323 RARB Zornitza Stark Gene: rarb has been classified as Red List (Low Evidence).
Cerebral Palsy v1.322 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Cerebral Palsy v1.322 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.322 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Cerebral Palsy v1.322 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.321 POLR2A Zornitza Stark Marked gene: POLR2A as ready
Cerebral Palsy v1.321 POLR2A Zornitza Stark Gene: polr2a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.321 POLR2A Zornitza Stark Classified gene: POLR2A as Red List (low evidence)
Cerebral Palsy v1.321 POLR2A Zornitza Stark Gene: polr2a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.320 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to 33528536; 34788679
Cerebral Palsy v1.319 KCNB1 Zornitza Stark Classified gene: KCNB1 as Green List (high evidence)
Cerebral Palsy v1.319 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.318 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Cerebral Palsy v1.318 CHD3 Zornitza Stark Gene: chd3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.318 CHD3 Zornitza Stark Classified gene: CHD3 as Red List (low evidence)
Cerebral Palsy v1.318 CHD3 Zornitza Stark Gene: chd3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.317 ABHD16A Zornitza Stark Marked gene: ABHD16A as ready
Cerebral Palsy v1.317 ABHD16A Zornitza Stark Gene: abhd16a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.317 ABHD16A Zornitza Stark Classified gene: ABHD16A as Red List (low evidence)
Cerebral Palsy v1.317 ABHD16A Zornitza Stark Gene: abhd16a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.316 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Cerebral Palsy v1.316 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.316 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Red List (low evidence)
Cerebral Palsy v1.316 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Red List (Low Evidence).
Mendeliome v1.1846 ERBB4 Zornitza Stark changed review comment from: ALS: at least 4 families reported with SNVs.

ID: intragenic deletions in 3 families, some inherited.; to: ALS: at least 4 families reported with SNVs, but LIMITED by ClinGen.

ID: intragenic deletions in 3 families, some inherited. Unclear if SNVs cause phenotype.
Mendeliome v1.1846 ERBB4 Zornitza Stark edited their review of gene: ERBB4: Changed rating: AMBER
Cerebral Palsy v1.315 ZMYM2 Clare van Eyk gene: ZMYM2 was added
gene: ZMYM2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYM2 were set to PMID: 38168508
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522
Review for gene: ZMYM2 was set to RED
Added comment: Single case with de novo pathogenic variant in ZMYM2, diagnosed with spastic quadriplegic cerebral palsy originally attributed to other causes (PMID: 38168508).
Sources: Literature
Cerebral Palsy v1.315 ABHD16A Clare van Eyk gene: ABHD16A was added
gene: ABHD16A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to PMID: 38168508
Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, MIM#619735
Review for gene: ABHD16A was set to RED
Added comment: Single case with homozygous LP variant in ABHD16A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508). SPG86 is associated with global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies.
Sources: Literature
Cerebral Palsy v1.315 CHD3 Clare van Eyk gene: CHD3 was added
gene: CHD3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to PMID: 38168508
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205
Review for gene: CHD3 was set to RED
Added comment: Single case with de novo LP variant in CHD3, diagnosed with spastic hemiplegic cerebral palsy with unclear cause (PMID: 38168508). Causal link not established.
Sources: Literature
Cerebral Palsy v1.315 KCNB1 Clare van Eyk edited their review of gene: KCNB1: Added comment: Additional case with de novo likely pathogenic variant, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).; Changed rating: GREEN; Changed publications: PMID: 38693247, 38168508
Cerebral Palsy v1.315 POLR2A Clare van Eyk gene: POLR2A was added
gene: POLR2A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to PMID: 38168508
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603
Review for gene: POLR2A was set to RED
Added comment: Single case with de novo LP variant in POLR2A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508).
Sources: Literature
Cerebral Palsy v1.315 MAPK8IP3 Clare van Eyk gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to PMID: 38168508
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443
Review for gene: MAPK8IP3 was set to AMBER
Added comment: Single case with pathogenic MAPK8IP3 variant, inheritance not confirmed, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).

Additional cases series reported two recurrent de novo missense variants in MAPK8IP3 in 5 individuals from four families with a core set of neurodevelopmental symptoms, including spastic diplegia, intellectual disability, and corpus callosum hypoplasia (PMID: 30945334).
Sources: Literature
Cerebral Palsy v1.315 RARB Clare van Eyk gene: RARB was added
gene: RARB was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to PMID: 38168508
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM#615524
Mode of pathogenicity for gene: RARB was set to Other
Review for gene: RARB was set to RED
Added comment: 1 individual reported with phenotype mimicking CP and recurrent p.Leu213Pro GOF variant in RARB. GOF variants in RARB are associated with severe global developmental delay with progressive motor impairment due to spasticity and/or dystonia (with or without chorea). Biallelic truncating variants also reported to cause microphthalmia and diaphragmatic hernia.
Sources: Literature
Cerebral Palsy v1.315 B4GALNT1 Clare van Eyk edited their review of gene: B4GALNT1: Added comment: Additional case with compound heterozygous variants in B4GALNT1, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).; Changed rating: AMBER; Changed publications: PMID: 38693247, PMID: 38168508
Cerebral Palsy v1.315 ZDHHC9 Clare van Eyk gene: ZDHHC9 was added
gene: ZDHHC9 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to PMID: 33528536; PMID: 38693247
Phenotypes for gene: ZDHHC9 were set to Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799
Review for gene: ZDHHC9 was set to AMBER
Added comment: Single males hemizygous for P/LP variants reported in each of 2 large CP sequencing studies (PMID: 33528536; PMID: 38693247). Detailed clinical information not supplied for either. Genome-wide significant burden of rare variants in ZDHHC9 reported in panel resequencing study of CP cohort (PMID: 31700678).
Sources: Literature
Cerebral Palsy v1.315 THOC2 Clare van Eyk gene: THOC2 was added
gene: THOC2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: THOC2 were set to PMID: 38168508; PMID: 38693247; PMID: 32116545
Phenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12, MIM#300957
Review for gene: THOC2 was set to GREEN
Added comment: 3 hemizygous males with pathogenic/likely pathogenic variants reported in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

Additional female with cryptogenic spastic quadriplegic CP also reported with heterozygous de novo pathogenic THOC2 variant (PMID: 38168508). Some females reported in literature previously. Dyskinesia, dystonia and spasticity are reported as clinical features in several additional cases in a series (PMID: 32116545).
Sources: Literature
Cerebral Palsy v1.315 TAF1 Clare van Eyk reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966, Dystonia-Parkinsonism, X-linked, OMIM #314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.315 PQBP1 Clare van Eyk gene: PQBP1 was added
gene: PQBP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to PMID: 38693247
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, MIM#309500
Review for gene: PQBP1 was set to RED
Added comment: 1 hemizygous male reported with splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spastic diplegia is a common feature in individuals with Renpenning syndrome.
Sources: Literature
Cerebral Palsy v1.315 POLA1 Clare van Eyk gene: POLA1 was added
gene: POLA1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: POLA1 were set to PMID: 38693247
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome, MIM#301030
Review for gene: POLA1 was set to AMBER
Added comment: 3 males with hemizygous LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spasticity has been reported as a rare feature of VEODS.
Sources: Literature
Cerebral Palsy v1.315 PHF6 Clare van Eyk gene: PHF6 was added
gene: PHF6 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHF6 were set to PMID: 38693247
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, MIM#301900
Review for gene: PHF6 was set to RED
Added comment: Single male proband with hemizygous variant impacting splicing of the first non-coding exon reported in large-scale exome sequencing study (PMID: 38693247). In silico prediction is strong, but functional impact not assessed. Detailed clinical information not supplied. BFLS is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities.
Sources: Literature
Cerebral Palsy v1.315 PLP1 Clare van Eyk reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.315 PIGA Clare van Eyk reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072, Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.315 OPHN1 Clare van Eyk gene: OPHN1 was added
gene: OPHN1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OPHN1 were set to PMID: 38693247
Phenotypes for gene: OPHN1 were set to Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486
Review for gene: OPHN1 was set to RED
Added comment: 1 male with hemizygous variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MRXSBL is associated with generalized hypotonia and delayed psychomotor development from infancy, with some individuals developing ataxia associated with cerebellar hypoplasia.
Sources: Literature
Speech apraxia v0.8 ERF Thomas Scerri gene: ERF was added
gene: ERF was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to 36117209; 35761471; 35852485
Phenotypes for gene: ERF were set to Craniosynostosis 4, MIM# 600775
Review for gene: ERF was set to AMBER
Added comment: First two reported CAS cases with a nonsense ERF variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review
Speech apraxia v0.8 DIP2C Thomas Scerri gene: DIP2C was added
gene: DIP2C was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIP2C were set to 36117209; 38421105
Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO:0700092), DIP2C-related
Review for gene: DIP2C was set to AMBER
Added comment: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209).

Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 BRPF1 Thomas Scerri gene: BRPF1 was added
gene: BRPF1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRPF1 were set to 36117209; 27939640; 38346666
Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
Review for gene: BRPF1 was set to GREEN
Added comment: First reported CAS proband with a de novo missense BRPF1 variant (Kaspi et al., 2022; PMID: 36117209).

Yan et al. (2017; PMID: 27939640) reported 10 independent cases with de novo or inherited BRPF1 variants and with a range of speech and language deficits, including one proband with speech apraxia (proband 4, Table S1).

Morison et al. (2024; PMID: 38346666) report 15 new cases with mostly de novo BRPF1 variants and a range of speech deficits, including 3 specifically with speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 ARHGEF9 Thomas Scerri gene: ARHGEF9 was added
gene: ARHGEF9 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ARHGEF9 were set to 36117209
Phenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM# 300607
Review for gene: ARHGEF9 was set to RED
Added comment: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.8 ZNF142 Thomas Scerri gene: ZNF142 was added
gene: ZNF142 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 32345733; 31036918; 34531528; 35616059
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425
Review for gene: ZNF142 was set to AMBER
Added comment: A reported CAS proband with compound heterozygous missenses ZNF142 variants (Hildebrand et al., 2020; PMID: 32345733).

Khan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous LoF or missense ZNF142 variants for which the cases have a range of speech deficits including speech apraxia in one case.

Kameyama et al. (2020, PMID: 34531528) report two brothers with biallelic LoF ZNF142 variants for which the cases have speech deficits.

Christensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.
Sources: Expert list, Expert Review
Speech apraxia v0.8 UPF2 Thomas Scerri gene: UPF2 was added
gene: UPF2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: UPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UPF2 were set to 32345733; 31585809
Phenotypes for gene: UPF2 were set to Neurodevelopmental disorder (MONDO:0700092), UPF2-related
Review for gene: UPF2 was set to RED
Added comment: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733).

Johnson et al. (2019; PMID: 31585809) report 3 independent cases with LoF UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing).
Sources: Expert list, Expert Review
Speech apraxia v0.8 POGZ Thomas Scerri gene: POGZ was added
gene: POGZ was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POGZ were set to 32345733; 35052493
Phenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364
Review for gene: POGZ was set to RED
Added comment: Only reported CAS proband with a de novo missense POGZ variant (Hildebrand et al., 2020; PMID: 32345733).

Nagy et al. (2022; PMID: 35052493) reported 117 cases from a meta-analysis and found that "the most common symptoms were speech delay in 88%". This is not strong enough evidence to be supporting evidence for speech apraxia per se.
Sources: Expert list, Expert Review
Speech apraxia v0.8 MEIS2 Thomas Scerri gene: MEIS2 was added
gene: MEIS2 was added to Speech apraxia. Sources: Expert Review,Expert list
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEIS2 were set to 32345733; 30055086
Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987
Review for gene: MEIS2 was set to AMBER
Added comment: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733).

Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia.
Sources: Expert Review, Expert list
Speech apraxia v0.8 GNB1 Thomas Scerri gene: GNB1 was added
gene: GNB1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 32345733
Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Review for gene: GNB1 was set to RED
Added comment: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733).
Sources: Expert list, Expert Review
Speech apraxia v0.8 GNAO1 Thomas Scerri gene: GNAO1 was added
gene: GNAO1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAO1 were set to 32345733; 35722775; 38881224
Phenotypes for gene: GNAO1 were set to Developmental and epileptic encephalopathy 17, MIM# 615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Review for gene: GNAO1 was set to AMBER
Added comment: First reported CAS proband with a de novo missense GNAO1 variant (Hildebrand et al., 2020; PMID: 32345733).

These additional cases are less clear for speech apraxia:

Wirth et al. (2020; PMID: 35722775) reported twenty-four independent cases with a range of de novo and inherited variants, including missense and nonsense, for which a speech disorder (dysarthria) was reported for 19 individuals.

Lasa-Aranzasti et al. (2024; PMID: 38881224) report eighteen independent cases and find "all patients developed some type of nonverbal communication, but only four acquired verbal language."
Sources: Expert list, Expert Review
Speech apraxia v0.8 EBF3 Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review; to: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Of these ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.8 EBF3 Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al., (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.
Sources: Expert list, Expert Review; to: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.

Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).

Sources: Expert list, Expert Review
Speech apraxia v0.8 DDX3X Thomas Scerri changed review comment from: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Second proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209)

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)".
Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo LoF DDX3X variant (Hildebrand et al., 2020; PMID: 32345733).

Second reported CAS proband with a de novo LoF DDX3X variant (Kaspi et al., 2022; PMID: 36117209)

Third in-house CAS proband with a de novo LoF DDX3X variant (not published).

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)".
Sources: Expert list, Expert Review
Speech apraxia v0.8 TNRC6B Thomas Scerri edited their review of gene: TNRC6B: Changed rating: AMBER
Speech apraxia v0.8 TNRC6B Thomas Scerri changed review comment from: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.
Sources: Expert list, Expert Review; to: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).

These additional supporting studies are for speech delay rather than speech apraxia per se:

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.
Sources: Expert list, Expert Review
Cerebral Palsy v1.315 MED12 Clare van Eyk changed review comment from: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.

1 additional female with a de novo heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536); to: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.

1 additional female with a de novo likely pathogenic heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536)
Cerebral Palsy v1.315 MED12 Clare van Eyk reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID 33528536; Phenotypes: Opitz-Kaveggia syndrome, MIM#305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.315 MED12 Clare van Eyk Deleted their review
Cerebral Palsy v1.315 MED12 Clare van Eyk changed review comment from: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.
Sources: Literature; to: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.

1 additional female with a de novo heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536)
Sources: Literature
Cerebral Palsy v1.315 MED12 Clare van Eyk gene: MED12 was added
gene: MED12 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED12 were set to PMID: 38693247
Phenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, MIM#305450
Review for gene: MED12 was set to RED
Added comment: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.
Sources: Literature
Cerebral Palsy v1.315 L1CAM Clare van Eyk reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID 33528536; Phenotypes: CRASH syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.315 KDM5C Clare van Eyk reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.315 HPRT1 Clare van Eyk reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Hyperuricemia, HRPT-related MIM#300323, Lesch-Nyhan syndrome MIM#300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.315 HCFC1 Clare van Eyk gene: HCFC1 was added
gene: HCFC1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to PMID: 38693247
Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Review for gene: HCFC1 was set to AMBER
Added comment: 2 males reported with hemizygous LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MAHCX is characterized by severely delayed psychomotor development apparent in infancy.
Sources: Literature
Speech apraxia v0.8 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: AMBER
Speech apraxia v0.8 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: RED
Speech apraxia v0.8 SETD1A Thomas Scerri changed review comment from: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)".
Sources: Expert list, Expert Review; to: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Cerebral Palsy v1.315 CCDC22 Clare van Eyk changed review comment from: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals.
Sources: Literature; to: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in CCDC22 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals.
Sources: Literature
Cerebral Palsy v1.315 FGD1 Clare van Eyk gene: FGD1 was added
gene: FGD1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGD1 were set to PMID: 38693247; PMID:33528536
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome; Intellectual developmental disorder, X-linked syndromic 16, MIM#305400
Review for gene: FGD1 was set to RED
Added comment: 1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Additional male with de novo hemizygous pathogenic variant reported in a clinical laboratory referral cohort (PMID:33528536). No clear phenotypic overlap with CP.
Sources: Literature
Cerebral Palsy v1.315 EBP Clare van Eyk gene: EBP was added
gene: EBP was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EBP were set to PMID: 38693247
Phenotypes for gene: EBP were set to MEND syndrome, MIM#300960
Review for gene: EBP was set to RED
Added comment: 1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MEND syndrome is associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia).
Sources: Literature
Speech apraxia v0.8 EBF3 Thomas Scerri gene: EBF3 was added
gene: EBF3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EBF3 were set to 32345733; 28017372
Phenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Review for gene: EBF3 was set to GREEN
Added comment: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al., (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 DDX3X Thomas Scerri gene: DDX3X was added
gene: DDX3X was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DDX3X were set to 32345733; 36117209; 37904618
Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958
Review for gene: DDX3X was set to GREEN
Added comment: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Second proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209)

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)".
Sources: Expert list, Expert Review
Cerebral Palsy v1.315 CLCN4 Clare van Eyk reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37789889; Phenotypes: Raynaud-Claes syndrome MIM#300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v1.315 CCDC22 Clare van Eyk gene: CCDC22 was added
gene: CCDC22 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CCDC22 were set to PMID: 38693247
Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM#300963
Review for gene: CCDC22 was set to RED
Added comment: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals.
Sources: Literature
Microcephaly v1.264 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Deafness_IsolatedAndComplex v1.186 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Microcephaly v1.263 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Intellectual disability syndromic and non-syndromic v0.6045 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Congenital nystagmus v1.21 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Intellectual disability syndromic and non-syndromic v0.6044 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Mendeliome v1.1846 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Congenital nystagmus v1.20 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Deafness_IsolatedAndComplex v1.185 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Microcephaly v1.262 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Mendeliome v1.1845 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Ataxia - paediatric v1.22 MTCL1 Zornitza Stark Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v1.10 MTCL1 Zornitza Stark Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1844 MTCL1 Zornitza Stark Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6043 ZNF292 Ain Roesley Phenotypes for gene: ZNF292 were changed from Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; autism; ADHD to Intellectual developmental disorder, autosomal dominant 64 MIM#619188
Mendeliome v1.1843 ZNF292 Ain Roesley Phenotypes for gene: ZNF292 were changed from Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 64 MIM#619188
Speech apraxia v0.8 CDK13 Thomas Scerri gene: CDK13 was added
gene: CDK13 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK13 were set to 32345733; 36599938
Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360
Review for gene: CDK13 was set to GREEN
Added comment: First proband with a de novo missense CDK13 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Morison et al. (2023; PMID: 36599938) report 41 cases (with 33 novel variants) and find "most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22)."
Sources: Expert list, Expert Review
Speech apraxia v0.8 ZFHX4 Thomas Scerri gene: ZFHX4 was added
gene: ZFHX4 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 29463886; 34461323
Phenotypes for gene: ZFHX4 were set to Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related
Review for gene: ZFHX4 was set to RED
Added comment: First proband with splice acceptor ZFHX4 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fontana et al. (2021; PMID: 34461323) report a similar splice region variant in ZFHX4 for a proband with a neuropsychological phenotype, and summarise other probands with deletions or point mutations and associated phenotypes. Only one of these has a recorded speech phenotype. Overall this paper doesn't add strong evidence for a link between speech apraxia and ZFHX4.
Sources: Expert list, Expert Review
Speech apraxia v0.8 WDR5 Thomas Scerri gene: WDR5 was added
gene: WDR5 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to 29463886; 36408368
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder (MONDO:0700092), WDR5-related
Review for gene: WDR5 was set to GREEN
Added comment: First proband with a de novo missense WDR5 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering."
Sources: Expert list, Expert Review
Speech apraxia v0.8 TNRC6B Thomas Scerri gene: TNRC6B was added
gene: TNRC6B was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNRC6B were set to 29463886; 32152250; 38300321; 38404251
Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, MIM# 619243
Review for gene: TNRC6B was set to GREEN
Added comment: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.
Sources: Expert list, Expert Review
Speech apraxia v0.8 SETD1A Thomas Scerri gene: SETD1A was added
gene: SETD1A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 29463886; 32346159
Phenotypes for gene: SETD1A were set to Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Review for gene: SETD1A was set to GREEN
Added comment: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)".
Sources: Expert list, Expert Review
Speech apraxia v0.8 SETBP1 Thomas Scerri gene: SETBP1 was added
gene: SETBP1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETBP1 were set to 29463886; 33907317
Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM# 616078
Review for gene: SETBP1 was set to GREEN
Added comment: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.".
Sources: Expert list, Expert Review
Cerebral Palsy v1.315 ROGDI Zornitza Stark Marked gene: ROGDI as ready
Cerebral Palsy v1.315 ROGDI Zornitza Stark Gene: rogdi has been classified as Red List (Low Evidence).
Cerebral Palsy v1.315 ROGDI Zornitza Stark Classified gene: ROGDI as Red List (low evidence)
Cerebral Palsy v1.315 ROGDI Zornitza Stark Gene: rogdi has been classified as Red List (Low Evidence).
Cerebral Palsy v1.314 RTTN Zornitza Stark Marked gene: RTTN as ready
Cerebral Palsy v1.314 RTTN Zornitza Stark Gene: rttn has been classified as Red List (Low Evidence).
Cerebral Palsy v1.314 RTTN Zornitza Stark Classified gene: RTTN as Red List (low evidence)
Cerebral Palsy v1.314 RTTN Zornitza Stark Gene: rttn has been classified as Red List (Low Evidence).
Cerebral Palsy v1.313 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Cerebral Palsy v1.313 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.313 SLC25A12 Zornitza Stark Classified gene: SLC25A12 as Red List (low evidence)
Cerebral Palsy v1.313 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.312 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Cerebral Palsy v1.311 SYNE1 Zornitza Stark Publications for gene: SYNE1 were set to 34321325; 34816117
Cerebral Palsy v1.310 TH Zornitza Stark Publications for gene: TH were set to 34788679
Cerebral Palsy v1.309 TH Zornitza Stark Classified gene: TH as Green List (high evidence)
Cerebral Palsy v1.309 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Cerebral Palsy v1.308 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Cerebral Palsy v1.308 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.308 VPS13B Zornitza Stark Classified gene: VPS13B as Red List (low evidence)
Cerebral Palsy v1.308 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.307 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Cerebral Palsy v1.307 VPS53 Zornitza Stark Gene: vps53 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.307 VPS53 Zornitza Stark Classified gene: VPS53 as Red List (low evidence)
Cerebral Palsy v1.307 VPS53 Zornitza Stark Gene: vps53 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.306 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Cerebral Palsy v1.306 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.306 WDR62 Zornitza Stark Classified gene: WDR62 as Red List (low evidence)
Cerebral Palsy v1.306 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.305 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to 33528536; 34788679
Cerebral Palsy v1.304 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to 31700678
Cerebral Palsy v1.303 HUWE1 Zornitza Stark Classified gene: HUWE1 as Amber List (moderate evidence)
Cerebral Palsy v1.303 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.302 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder MIM#309530
Cerebral Palsy v1.301 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to 33368194; 20473311; 23674175; 33528536
Cerebral Palsy v1.300 MECP2 Zornitza Stark Publications for gene: MECP2 were set to 30542205; 33528536
Cerebral Palsy v1.299 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to 33528536; 10486093
Cerebral Palsy v1.298 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Cerebral Palsy v1.298 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.298 SLC35A2 Zornitza Stark Classified gene: SLC35A2 as Red List (low evidence)
Cerebral Palsy v1.298 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.297 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Cerebral Palsy v1.297 SMC1A Zornitza Stark Gene: smc1a has been classified as Red List (Low Evidence).
Cerebral Palsy v1.297 SMC1A Zornitza Stark Classified gene: SMC1A as Red List (low evidence)
Cerebral Palsy v1.297 SMC1A Zornitza Stark Gene: smc1a has been classified as Red List (Low Evidence).