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BabyScreen+ newborn screening v1.114 ZIC2 Tommy Li Added phenotypes Holoprosencephaly MIM#603073 for gene: ZIC2
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 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 TRAPPC2 Tommy Li Added phenotypes Spondyloepiphyseal dysplasia tarda MIM#313400 for gene: TRAPPC2
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 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 SHOC2 Tommy Li Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2
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 MCCC2 Tommy Li Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 for gene: MCCC2
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 HERC2 Tommy Li Added phenotypes Autism spectrum disorder for gene: HERC2
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 FOXC2 Tommy Li Added phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 for gene: FOXC2
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 ERCC2 Tommy Li Added phenotypes Xeroderma pigmentosum, group D, MIM# 278730 for gene: ERCC2
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 BNC2 Tommy Li Added phenotypes Total anomalous pulmonary venous return for gene: BNC2
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 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 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 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 RAC2 Tommy Li Added phenotypes Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986 for gene: RAC2
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 NPC2 Tommy Li Added phenotypes Niemann-Pick disease type C2, MIM#607625 for gene: NPC2
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 DNAJC21 Tommy Li Added phenotypes Bone marrow failure syndrome 3, MIM# 617052 for gene: DNAJC21
BabyScreen+ newborn screening v1.114 C2 Tommy Li Added phenotypes C2 deficiency, MIM# 217000 for gene: C2
BabyScreen+ newborn screening v1.32 C2 Zornitza Stark Marked gene: C2 as ready
BabyScreen+ newborn screening v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.32 C2 Zornitza Stark Classified gene: C2 as Green List (high evidence)
BabyScreen+ newborn screening v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.31 C2 Zornitza Stark Tag treatable tag was added to gene: C2.
Tag immunological tag was added to gene: C2.
BabyScreen+ newborn screening v1.31 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2 were set to 31421540
Phenotypes for gene: C2 were set to C2 deficiency, MIM# 217000
Review for gene: C2 was set to GREEN
Added comment: Established gene-disease association.

Can present with severe early infections in infancy/childhood.

Later manifestations include autoimmune phenomena.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: complement levels
Sources: Expert list
BabyScreen+ newborn screening v0.2117 SLC26A7 Zornitza Stark Marked gene: SLC26A7 as ready
BabyScreen+ newborn screening v0.2117 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2117 SLC26A7 Zornitza Stark Classified gene: SLC26A7 as Green List (high evidence)
BabyScreen+ newborn screening v0.2117 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2116 SLC26A7 Zornitza Stark gene: SLC26A7 was added
gene: SLC26A7 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: SLC26A7.
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321
Phenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Review for gene: SLC26A7 was set to GREEN
Added comment: More than 10 unrelated families reported.

Congenital hypothyroidism.

Treatment: thyroxine.

Should be detected through standard NBS.
Sources: Expert list
BabyScreen+ newborn screening v0.2048 RAC2 Zornitza Stark Marked gene: RAC2 as ready
BabyScreen+ newborn screening v0.2048 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2048 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986
BabyScreen+ newborn screening v0.2047 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
BabyScreen+ newborn screening v0.2047 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2046 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: RAC2.
Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAC2 were set to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986
Review for gene: RAC2 was set to GREEN
Added comment: Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia
13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models

Mono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)

These individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.

SCID-like phenotype.

Treatment: IVIG, BMT

Note evidence for the other two immunodeficiency disorders associated with this gene is limited.
Sources: Expert list
BabyScreen+ newborn screening v0.1940 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
BabyScreen+ newborn screening v0.1940 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1940 DNAJC21 Zornitza Stark Tag treatable tag was added to gene: DNAJC21.
Tag haematological tag was added to gene: DNAJC21.
BabyScreen+ newborn screening v0.1940 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
BabyScreen+ newborn screening v0.1940 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1939 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.

Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant

Confirmatory non-genetic testing: no; FBE as pancytopenia evolves.
Sources: Expert Review
BabyScreen+ newborn screening v0.1903 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
BabyScreen+ newborn screening v0.1903 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1903 MCCC2 Zornitza Stark Phenotypes for gene: MCCC2 were changed from 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210 to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210
BabyScreen+ newborn screening v0.1902 MCCC2 Zornitza Stark Publications for gene: MCCC2 were set to
BabyScreen+ newborn screening v0.1901 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1883 MCCC2 Lilian Downie reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22642865; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1847 DSC2 Zornitza Stark Tag for review was removed from gene: DSC2.
BabyScreen+ newborn screening v0.1756 DSC2 Zornitza Stark Marked gene: DSC2 as ready
BabyScreen+ newborn screening v0.1756 DSC2 Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1756 DSC2 Zornitza Stark Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
BabyScreen+ newborn screening v0.1755 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1754 DSC2 Zornitza Stark Tag for review tag was added to gene: DSC2.
Tag cardiac tag was added to gene: DSC2.
Tag treatable tag was added to gene: DSC2.
BabyScreen+ newborn screening v0.1754 DSC2 Zornitza Stark edited their review of gene: DSC2: Changed rating: AMBER
BabyScreen+ newborn screening v0.1754 DSC2 Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1745 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from Pendred syndrome, MIM #274600 to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600
BabyScreen+ newborn screening v0.1744 SLC26A4 Zornitza Stark Classified gene: SLC26A4 as Green List (high evidence)
BabyScreen+ newborn screening v0.1744 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1743 SLC26A4 Zornitza Stark Tag for review was removed from gene: SLC26A4.
Tag deafness tag was added to gene: SLC26A4.
BabyScreen+ newborn screening v0.1743 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791, Pendred syndrome 274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1714 SLC26A3 Zornitza Stark Tag treatable tag was added to gene: SLC26A3.
Tag gastrointestinal tag was added to gene: SLC26A3.
BabyScreen+ newborn screening v0.1714 SLC25A15 Zornitza Stark Tag treatable tag was added to gene: SLC25A15.
Tag metabolic tag was added to gene: SLC25A15.
BabyScreen+ newborn screening v0.1712 SLC22A5 Zornitza Stark Tag metabolic tag was added to gene: SLC22A5.
BabyScreen+ newborn screening v0.1710 NR3C2 Zornitza Stark Tag treatable tag was added to gene: NR3C2.
Tag endocrine tag was added to gene: NR3C2.
BabyScreen+ newborn screening v0.1710 NPC2 Zornitza Stark Tag treatable tag was added to gene: NPC2.
Tag metabolic tag was added to gene: NPC2.
BabyScreen+ newborn screening v0.1710 MC2R Zornitza Stark Tag endocrine tag was added to gene: MC2R.
BabyScreen+ newborn screening v0.1632 SLC25A19 John Christodoulou reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31095747; Phenotypes: recurrent encephalopathy, basal ganglia necrosis, generalized dystonia, polyneuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1632 SLC25A15 John Christodoulou reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22649802; Phenotypes: dev delay, encephalopathy, seizures, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1632 SLC25A13 John Christodoulou reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301360, PMID: 31255436; Phenotypes: neonatal cholestatic jaundice, neuropsychiatric abnormalities, ID, failure to thrive, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1426 SLC25A13 Zornitza Stark Tag for review was removed from gene: SLC25A13.
Tag treatable tag was added to gene: SLC25A13.
BabyScreen+ newborn screening v0.1420 SLC2A1 Zornitza Stark Tag treatable tag was added to gene: SLC2A1.
Tag neurological tag was added to gene: SLC2A1.
BabyScreen+ newborn screening v0.1420 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1327 SLC2A10 Seb Lunke Marked gene: SLC2A10 as ready
BabyScreen+ newborn screening v0.1327 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1327 SLC2A10 Seb Lunke Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome to Arterial tortuosity syndrome MIM#208050
BabyScreen+ newborn screening v0.1326 SLC2A10 Seb Lunke Classified gene: SLC2A10 as Red List (low evidence)
BabyScreen+ newborn screening v0.1326 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1325 SLC2A10 Seb Lunke reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1325 SLC2A1 Seb Lunke Marked gene: SLC2A1 as ready
BabyScreen+ newborn screening v0.1325 SLC2A1 Seb Lunke Gene: slc2a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1325 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1324 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1323 SLC2A1 Seb Lunke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1323 SLC27A4 Seb Lunke Marked gene: SLC27A4 as ready
BabyScreen+ newborn screening v0.1323 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1323 SLC27A4 Seb Lunke Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, MIM#608649
BabyScreen+ newborn screening v0.1322 SLC27A4 Seb Lunke Publications for gene: SLC27A4 were set to
BabyScreen+ newborn screening v0.1321 SLC27A4 Seb Lunke Classified gene: SLC27A4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1321 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1320 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301593; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1320 SLC26A4 Seb Lunke Marked gene: SLC26A4 as ready
BabyScreen+ newborn screening v0.1320 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1320 SLC26A4 Seb Lunke Phenotypes for gene: SLC26A4 were changed from Pendred syndrome to Pendred syndrome, MIM #274600
BabyScreen+ newborn screening v0.1319 SLC26A4 Seb Lunke Publications for gene: SLC26A4 were set to
BabyScreen+ newborn screening v0.1318 SLC26A4 Seb Lunke Classified gene: SLC26A4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1318 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1317 SLC26A4 Seb Lunke Tag for review tag was added to gene: SLC26A4.
BabyScreen+ newborn screening v0.1317 SLC26A4 Seb Lunke reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301640; Phenotypes: Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Marked gene: GJC2 as ready
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Pelizaeus-Merzbacher-like disease to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
BabyScreen+ newborn screening v0.1198 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1197 GJC2 Zornitza Stark Classified gene: GJC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1197 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1196 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1190 SLC25A38 Zornitza Stark Tag treatable tag was added to gene: SLC25A38.
Tag haematological tag was added to gene: SLC25A38.
BabyScreen+ newborn screening v0.1190 SLC25A20 Zornitza Stark Tag metabolic tag was added to gene: SLC25A20.
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Marked gene: SLC26A3 as ready
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Gene: slc26a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
BabyScreen+ newborn screening v0.1165 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Tag for review tag was added to gene: SLC26A2.
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from Achondrogenesis 1B to Achondrogenesis 1B, MIM#600972
BabyScreen+ newborn screening v0.1164 SLC26A2 Seb Lunke Classified gene: SLC26A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1164 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1163 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis 1B, MIM#600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Marked gene: SLC25A4 as ready
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Phenotypes for gene: SLC25A4 were changed from Progressive external ophthalmoplegia to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
BabyScreen+ newborn screening v0.1162 SLC25A4 Seb Lunke Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1161 SLC25A4 Seb Lunke Classified gene: SLC25A4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1161 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1160 SLC25A4 Seb Lunke reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
BabyScreen+ newborn screening v0.1155 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Marked gene: SLC25A20 as ready
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Gene: slc25a20 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Publications for gene: SLC25A20 were set to
BabyScreen+ newborn screening v0.1154 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Green List (high evidence)
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1153 SLC25A19 Zornitza Stark Tag for review was removed from gene: SLC25A19.
Tag treatable tag was added to gene: SLC25A19.
Tag metabolic tag was added to gene: SLC25A19.
BabyScreen+ newborn screening v0.1153 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1153 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
BabyScreen+ newborn screening v0.1152 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
BabyScreen+ newborn screening v0.1152 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1151 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1151 SLC25A13 Zornitza Stark Tag metabolic tag was added to gene: SLC25A13.
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Marked gene: SLC25A15 as ready
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Gene: slc25a15 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Publications for gene: SLC25A15 were set to
BabyScreen+ newborn screening v0.1150 SLC25A15 Seb Lunke reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Marked gene: SLC25A13 as ready
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Phenotypes for gene: SLC25A13 were changed from Citrullinemia, MIM#605814 to Citrullinemia, type II, neonatal-onset, MIM# 605814
BabyScreen+ newborn screening v0.1149 SLC25A13 Seb Lunke Classified gene: SLC25A13 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1149 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1148 SLC25A13 Seb Lunke Tag for review tag was added to gene: SLC25A13.
BabyScreen+ newborn screening v0.1148 SLC25A13 Seb Lunke reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301360; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1148 SLC25A19 Seb Lunke gene: SLC25A19 was added
gene: SLC25A19 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC25A19.
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 31095747
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Review for gene: SLC25A19 was set to AMBER
Added comment: Established gene-disease association.

Onset of acute encephalopathic attacks in childhood (3 to 7 years) often after febrile illness, full recovery after attacks. Onset of chronic progressive polyneuropathy in late childhood.

Treatment: 5 patients treated with thiamine supplementation, which led to a substantial improvement in peripheral neuropathy and gait in early treated patients

Non-genetic confirmatory test: No
Sources: Literature
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400
BabyScreen+ newborn screening v0.1137 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
BabyScreen+ newborn screening v0.1136 TRAPPC2 Zornitza Stark Classified gene: TRAPPC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1136 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1121 TRAPPC2 Lilian Downie reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1103 SLC25A1 Zornitza Stark Tag neurological tag was added to gene: SLC25A1.
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Marked gene: SLC25A1 as ready
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Publications for gene: SLC25A1 were set to
BabyScreen+ newborn screening v0.1102 SLC25A1 Seb Lunke Classified gene: SLC25A1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1102 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1101 SLC25A1 Seb Lunke Tag for review tag was added to gene: SLC25A1.
BabyScreen+ newborn screening v0.1101 SLC25A1 Seb Lunke reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1101 SLC22A5 Seb Lunke Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, MIM#212140 to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
BabyScreen+ newborn screening v0.1100 SLC22A5 Seb Lunke Publications for gene: SLC22A5 were set to
BabyScreen+ newborn screening v0.1099 SLC22A5 Seb Lunke reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1050 TSC2 Zornitza Stark Classified gene: TSC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1050 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1049 TSC2 Zornitza Stark Tag for review was removed from gene: TSC2.
BabyScreen+ newborn screening v0.1049 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1048 ERCC2 Zornitza Stark Classified gene: ERCC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1048 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1047 ERCC2 Zornitza Stark Tag for review was removed from gene: ERCC2.
BabyScreen+ newborn screening v0.1047 ERCC2 Zornitza Stark edited their review of gene: ERCC2: Changed rating: RED
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphoedema, primary to Lymphoedema-distichiasis syndrome, MIM# 153400
BabyScreen+ newborn screening v0.998 FOXC2 Zornitza Stark Classified gene: FOXC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.998 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.997 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Marked gene: EVC2 as ready
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
BabyScreen+ newborn screening v0.967 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.966 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.966 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.965 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730
BabyScreen+ newborn screening v0.952 ERCC2 Zornitza Stark Classified gene: ERCC2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.952 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
BabyScreen+ newborn screening v0.951 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Marked gene: TTC21B as ready
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
BabyScreen+ newborn screening v0.940 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.939 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
BabyScreen+ newborn screening v0.939 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Marked gene: TSC2 as ready
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
BabyScreen+ newborn screening v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
BabyScreen+ newborn screening v0.890 TSC2 Lilian Downie reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.890 TTC21B Lilian Downie reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.866 NPC2 Zornitza Stark Tag for review was removed from gene: NPC2.
BabyScreen+ newborn screening v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
BabyScreen+ newborn screening v0.719 NPC2 John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Marked gene: SH3TC2 as ready
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596
BabyScreen+ newborn screening v0.698 SH3TC2 Seb Lunke Classified gene: SH3TC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.698 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.697 SH3TC2 Seb Lunke reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
BabyScreen+ newborn screening v0.578 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
BabyScreen+ newborn screening v0.578 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.577 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Marked gene: NPC2 as ready
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
BabyScreen+ newborn screening v0.451 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.356 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
BabyScreen+ newborn screening v0.356 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.356 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly-5 to Holoprosencephaly MIM#603073
BabyScreen+ newborn screening v0.355 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
BabyScreen+ newborn screening v0.354 ZIC2 Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.354 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.274 NR3C2 David Amor reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.274 NPC2 David Amor reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.274 ZIC2 Lilian Downie reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
BabyScreen+ newborn screening v0.268 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.268 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
BabyScreen+ newborn screening v0.268 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.268 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
BabyScreen+ newborn screening v0.268 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.265 MC2R Zornitza Stark Marked gene: MC2R as ready
BabyScreen+ newborn screening v0.265 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.265 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
BabyScreen+ newborn screening v0.265 MC2R Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.237 MC2R David Amor reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.211 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
BabyScreen+ newborn screening v0.211 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.211 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
BabyScreen+ newborn screening v0.210 LAMC2 Zornitza Stark Classified gene: LAMC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.210 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.209 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.199 LAMC2 David Amor reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.199 SLC25A20 John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.199 SLC22A5 John Christodoulou reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.55 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
BabyScreen+ newborn screening v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.55 ABCC2 Zornitza Stark Classified gene: ABCC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.54 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
BabyScreen+ newborn screening v0.0 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
BabyScreen+ newborn screening v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
BabyScreen+ newborn screening v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
BabyScreen+ newborn screening v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
BabyScreen+ newborn screening v0.0 MCCC2 Zornitza Stark Source Expert Review Red was added to MCCC2.
Source BabySeq Category B gene was added to MCCC2.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Autism spectrum disorder
BabyScreen+ newborn screening v0.0 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
BabyScreen+ newborn screening v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy
BabyScreen+ newborn screening v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5
BabyScreen+ newborn screening v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820
BabyScreen+ newborn screening v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254
BabyScreen+ newborn screening v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
BabyScreen+ newborn screening v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
BabyScreen+ newborn screening v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
BabyScreen+ newborn screening v0.0 SLC27A4 Zornitza Stark gene: SLC27A4 was added
gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
BabyScreen+ newborn screening v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome
BabyScreen+ newborn screening v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
BabyScreen+ newborn screening v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B
BabyScreen+ newborn screening v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia
BabyScreen+ newborn screening v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
BabyScreen+ newborn screening v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138
BabyScreen+ newborn screening v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
BabyScreen+ newborn screening v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814
BabyScreen+ newborn screening v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
BabyScreen+ newborn screening v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140
BabyScreen+ newborn screening v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
BabyScreen+ newborn screening v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625
BabyScreen+ newborn screening v0.0 MCCC2 Zornitza Stark gene: MCCC2 was added
gene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210
BabyScreen+ newborn screening v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
BabyScreen+ newborn screening v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional
BabyScreen+ newborn screening v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
BabyScreen+ newborn screening v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
BabyScreen+ newborn screening v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
BabyScreen+ newborn screening v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
BabyScreen+ newborn screening v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome
BabyScreen+ newborn screening v0.0 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 11477083; 30344695
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500