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BabyScreen+ newborn screening v0.0 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8
BabyScreen+ newborn screening v0.0 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
BabyScreen+ newborn screening v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
BabyScreen+ newborn screening v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency
BabyScreen+ newborn screening v0.0 MCCC1 Zornitza Stark Source Expert Review Amber was added to MCCC1.
Source BabySeq Category B gene was added to MCCC1.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy
BabyScreen+ newborn screening v0.0 KCNQ1 Zornitza Stark Source BabySeq Category B gene was added to KCNQ1.
Source Expert Review Amber was added to KCNQ1.
Source BabySeq Category A gene was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease
BabyScreen+ newborn screening v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category C gene
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG2 were set to 27864268
Phenotypes for gene: GABRG2 were set to Epileptic encephalopathy, early infantile, 74 MIM# 618396; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Febrile seizures, familial, 8 MIM# 607681
BabyScreen+ newborn screening v0.0 DSP Zornitza Stark Source BabySeq Category B gene was added to DSP.
Source Expert Review Amber was added to DSP.
Source BabySeq Category A gene was added to DSP.
Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy
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 DMD Zornitza Stark Source BabySeq Category B gene was added to DMD.
Source Expert Review Amber was added to DMD.
Source BabySeq Category A gene was added to DMD.
Added phenotypes Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy, dilated for gene: DMD
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYAB were set to Myofibrillar myopathy; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic
BabyScreen+ newborn screening v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy
BabyScreen+ newborn screening v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
BabyScreen+ newborn screening v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
BabyScreen+ newborn screening v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome
BabyScreen+ newborn screening v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis
BabyScreen+ newborn screening v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
BabyScreen+ newborn screening v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis
BabyScreen+ newborn screening v0.0 VCP Zornitza Stark gene: VCP was added
gene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
BabyScreen+ newborn screening v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
BabyScreen+ newborn screening v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic
BabyScreen+ newborn screening v0.0 UROD Zornitza Stark gene: UROD was added
gene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic
BabyScreen+ newborn screening v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Nephropathy
BabyScreen+ newborn screening v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome
BabyScreen+ newborn screening v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related
BabyScreen+ newborn screening v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency
BabyScreen+ newborn screening v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150
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 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946
BabyScreen+ newborn screening v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to Hypothyroidism
BabyScreen+ newborn screening v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4
BabyScreen+ newborn screening v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A
BabyScreen+ newborn screening v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy
BabyScreen+ newborn screening v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal
BabyScreen+ newborn screening v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal
BabyScreen+ newborn screening v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type
BabyScreen+ newborn screening v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b
BabyScreen+ newborn screening v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5
BabyScreen+ newborn screening v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRB were set to Thyroid hormone resistance
BabyScreen+ newborn screening v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6
BabyScreen+ newborn screening v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407
BabyScreen+ newborn screening v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
BabyScreen+ newborn screening v0.0 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy
BabyScreen+ newborn screening v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
BabyScreen+ newborn screening v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
BabyScreen+ newborn screening v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
BabyScreen+ newborn screening v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile
BabyScreen+ newborn screening v0.0 STS Zornitza Stark gene: STS was added
gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked
BabyScreen+ newborn screening v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic
BabyScreen+ newborn screening v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
BabyScreen+ newborn screening v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA
BabyScreen+ newborn screening v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome
BabyScreen+ newborn screening v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
BabyScreen+ newborn screening v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency
BabyScreen+ newborn screening v0.0 SNAP25 Zornitza Stark gene: SNAP25 was added
gene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330
BabyScreen+ newborn screening v0.0 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
BabyScreen+ newborn screening v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
BabyScreen+ newborn screening v0.0 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy
BabyScreen+ newborn screening v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
BabyScreen+ newborn screening v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
BabyScreen+ newborn screening v0.0 SLC34A2 Zornitza Stark gene: SLC34A2 was added
gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis
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 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 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 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 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
BabyScreen+ newborn screening v0.0 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
BabyScreen+ newborn screening v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy
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 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion
BabyScreen+ newborn screening v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
BabyScreen+ newborn screening v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558
BabyScreen+ newborn screening v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900
BabyScreen+ newborn screening v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345
BabyScreen+ newborn screening v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM# 617938
BabyScreen+ newborn screening v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721
BabyScreen+ newborn screening v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
BabyScreen+ newborn screening v0.0 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic
BabyScreen+ newborn screening v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901
BabyScreen+ newborn screening v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
BabyScreen+ newborn screening v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 31737055; 31596031; 24327336; 19838196
Phenotypes for gene: RETREG1 were set to MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
BabyScreen+ newborn screening v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome
BabyScreen+ newborn screening v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome
BabyScreen+ newborn screening v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326
BabyScreen+ newborn screening v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome
BabyScreen+ newborn screening v0.0 RAB7A Zornitza Stark gene: RAB7A was added
gene: RAB7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia
BabyScreen+ newborn screening v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
BabyScreen+ newborn screening v0.0 PRKDC Zornitza Stark gene: PRKDC was added
gene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966
BabyScreen+ newborn screening v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224
BabyScreen+ newborn screening v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750
BabyScreen+ newborn screening v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
BabyScreen+ newborn screening v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome
BabyScreen+ newborn screening v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
BabyScreen+ newborn screening v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders
BabyScreen+ newborn screening v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090
BabyScreen+ newborn screening v0.0 PMP22 Zornitza Stark gene: PMP22 was added
gene: PMP22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000
Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
BabyScreen+ newborn screening v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005
BabyScreen+ newborn screening v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5
BabyScreen+ newborn screening v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance
BabyScreen+ newborn screening v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
BabyScreen+ newborn screening v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
BabyScreen+ newborn screening v0.0 P2RY12 Zornitza Stark gene: P2RY12 was added
gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987
Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
BabyScreen+ newborn screening v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250
BabyScreen+ newborn screening v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800
BabyScreen+ newborn screening v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis
BabyScreen+ newborn screening v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Nephronophthisis
BabyScreen+ newborn screening v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis
BabyScreen+ newborn screening v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
BabyScreen+ newborn screening v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
BabyScreen+ newborn screening v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress
BabyScreen+ newborn screening v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive
BabyScreen+ newborn screening v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
BabyScreen+ newborn screening v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
BabyScreen+ newborn screening v0.0 NEFL Zornitza Stark gene: NEFL was added
gene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310
BabyScreen+ newborn screening v0.0 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
BabyScreen+ newborn screening v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness
BabyScreen+ newborn screening v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426
BabyScreen+ newborn screening v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH3 were set to Arthrogryposis, distal
BabyScreen+ newborn screening v0.0 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
BabyScreen+ newborn screening v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822
Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335
BabyScreen+ newborn screening v0.0 MUT Zornitza Stark Source BabySeq Category A gene was added to MUT.
Added phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT
BabyScreen+ newborn screening v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325
BabyScreen+ newborn screening v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270
BabyScreen+ newborn screening v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940
BabyScreen+ newborn screening v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked
BabyScreen+ newborn screening v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital
BabyScreen+ newborn screening v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
BabyScreen+ newborn screening v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410
BabyScreen+ newborn screening v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
BabyScreen+ newborn screening v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110
BabyScreen+ newborn screening v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
BabyScreen+ newborn screening v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy
BabyScreen+ newborn screening v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
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 MCCC1 Zornitza Stark gene: MCCC1 was added
gene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM# 210200
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 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia
BabyScreen+ newborn screening v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304
BabyScreen+ newborn screening v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380
BabyScreen+ newborn screening v0.0 LITAF Zornitza Stark gene: LITAF was added
gene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation
BabyScreen+ newborn screening v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM# 262700
BabyScreen+ newborn screening v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
BabyScreen+ newborn screening v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM# 614959
BabyScreen+ newborn screening v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
BabyScreen+ newborn screening v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400
BabyScreen+ newborn screening v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis
BabyScreen+ newborn screening v0.0 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KBTBD13 were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 30737337; 30715177; 31116475
Phenotypes for gene: KARS were set to deafness with progressive leukodystrophy
BabyScreen+ newborn screening v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IYD were set to 18765512; 30240412; 18434651
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800
BabyScreen+ newborn screening v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
BabyScreen+ newborn screening v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
BabyScreen+ newborn screening v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2
BabyScreen+ newborn screening v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
BabyScreen+ newborn screening v0.0 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
BabyScreen+ newborn screening v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement
BabyScreen+ newborn screening v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress
BabyScreen+ newborn screening v0.0 HSPB8 Zornitza Stark gene: HSPB8 was added
gene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L
BabyScreen+ newborn screening v0.0 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
BabyScreen+ newborn screening v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710
BabyScreen+ newborn screening v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850
BabyScreen+ newborn screening v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450
BabyScreen+ newborn screening v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270
BabyScreen+ newborn screening v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia
BabyScreen+ newborn screening v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230
BabyScreen+ newborn screening v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541
BabyScreen+ newborn screening v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Beta-thalassemia
BabyScreen+ newborn screening v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131
BabyScreen+ newborn screening v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131
BabyScreen+ newborn screening v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
BabyScreen+ newborn screening v0.0 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721
BabyScreen+ newborn screening v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy
BabyScreen+ newborn screening v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNAS was set to Unknown
Phenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism
BabyScreen+ newborn screening v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400
BabyScreen+ newborn screening v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
BabyScreen+ newborn screening v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy
BabyScreen+ newborn screening v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy
BabyScreen+ newborn screening v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542
BabyScreen+ newborn screening v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
BabyScreen+ newborn screening v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
BabyScreen+ newborn screening v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
BabyScreen+ newborn screening v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy
BabyScreen+ newborn screening v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200
BabyScreen+ newborn screening v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
BabyScreen+ newborn screening v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806
BabyScreen+ newborn screening v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
BabyScreen+ newborn screening v0.0 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657
BabyScreen+ newborn screening v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
BabyScreen+ newborn screening v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
BabyScreen+ newborn screening v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome
BabyScreen+ newborn screening v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia
BabyScreen+ newborn screening v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN2 were set to 33571691
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050
BabyScreen+ newborn screening v0.0 FAS Zornitza Stark gene: FAS was added
gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859
BabyScreen+ newborn screening v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
BabyScreen+ newborn screening v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055
BabyScreen+ newborn screening v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679
BabyScreen+ newborn screening v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473
BabyScreen+ newborn screening v0.0 EGR2 Zornitza Stark gene: EGR2 was added
gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
BabyScreen+ newborn screening v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580
BabyScreen+ newborn screening v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
BabyScreen+ newborn screening v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
BabyScreen+ newborn screening v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821
BabyScreen+ newborn screening v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300
BabyScreen+ newborn screening v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear
BabyScreen+ newborn screening v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
BabyScreen+ newborn screening v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
BabyScreen+ newborn screening v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
BabyScreen+ newborn screening v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM# 615863
BabyScreen+ newborn screening v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554
BabyScreen+ newborn screening v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
BabyScreen+ newborn screening v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743
BabyScreen+ newborn screening v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830
BabyScreen+ newborn screening v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300
BabyScreen+ newborn screening v0.0 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300
BabyScreen+ newborn screening v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034
BabyScreen+ newborn screening v0.0 COL13A1 Zornitza Stark gene: COL13A1 was added
gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720
BabyScreen+ newborn screening v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276
Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
BabyScreen+ newborn screening v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement
BabyScreen+ newborn screening v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809
BabyScreen+ newborn screening v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321
BabyScreen+ newborn screening v0.0 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
BabyScreen+ newborn screening v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462
BabyScreen+ newborn screening v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210
BabyScreen+ newborn screening v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy
BabyScreen+ newborn screening v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 33938610; 24882706
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy
BabyScreen+ newborn screening v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650
BabyScreen+ newborn screening v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2
BabyScreen+ newborn screening v0.0 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
BabyScreen+ newborn screening v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
BabyScreen+ newborn screening v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
BabyScreen+ newborn screening v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
BabyScreen+ newborn screening v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC
BabyScreen+ newborn screening v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200
BabyScreen+ newborn screening v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia
BabyScreen+ newborn screening v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158
Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206
BabyScreen+ newborn screening v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
BabyScreen+ newborn screening v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
BabyScreen+ newborn screening v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness
BabyScreen+ newborn screening v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive
BabyScreen+ newborn screening v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I
BabyScreen+ newborn screening v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome
BabyScreen+ newborn screening v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722
BabyScreen+ newborn screening v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
BabyScreen+ newborn screening v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718
BabyScreen+ newborn screening v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly
BabyScreen+ newborn screening v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
BabyScreen+ newborn screening v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800
BabyScreen+ newborn screening v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
BabyScreen+ newborn screening v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227
BabyScreen+ newborn screening v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2
BabyScreen+ newborn screening v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
BabyScreen+ newborn screening v0.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
BabyScreen+ newborn screening v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120
BabyScreen+ newborn screening v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency
BabyScreen+ newborn screening v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150
BabyScreen+ newborn screening v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
BabyScreen+ newborn screening v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750
BabyScreen+ newborn screening v0.0 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE
BabyScreen+ newborn screening v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450
BabyScreen+ newborn screening v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease