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BabyScreen+ newborn screening v0.33 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
BabyScreen+ newborn screening v0.30 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603, disorders of ornithine or proline metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.30 ALB Zornitza Stark Marked gene: ALB as ready
BabyScreen+ newborn screening v0.28 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
BabyScreen+ newborn screening v0.26 AIRE Zornitza Stark Marked gene: AIRE as ready
BabyScreen+ newborn screening v0.25 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
BabyScreen+ newborn screening v0.23 AHI1 Zornitza Stark Marked gene: AHI1 as ready
BabyScreen+ newborn screening v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
BabyScreen+ newborn screening v0.20 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1 to Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823
BabyScreen+ newborn screening v0.18 AGXT Zornitza Stark reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33789010; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.18 AGA Zornitza Stark Marked gene: AGA as ready
BabyScreen+ newborn screening v0.18 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830
BabyScreen+ newborn screening v0.16 AGA Zornitza Stark reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.16 ADK Zornitza Stark Marked gene: ADK as ready
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Marked gene: ADAR as ready
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010
BabyScreen+ newborn screening v0.12 ADAR Zornitza Stark Publications for gene: ADAR were set to
BabyScreen+ newborn screening v0.11 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.10 ADAR Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.10 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.9 ADAR Zornitza Stark Tag for review tag was added to gene: ADAR.
Tag treatable tag was added to gene: ADAR.
Tag clinical trial tag was added to gene: ADAR.
BabyScreen+ newborn screening v0.9 ADAR Zornitza Stark reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.9 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
BabyScreen+ newborn screening v0.7 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
BabyScreen+ newborn screening v0.5 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
BabyScreen+ newborn screening v0.3 ACE Zornitza Stark Marked gene: ACE as ready
BabyScreen+ newborn screening v0.3 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
BabyScreen+ newborn screening v0.0 ACE Zornitza Stark reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
BabyScreen+ newborn screening v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia
BabyScreen+ newborn screening v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I
BabyScreen+ newborn screening v0.0 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
BabyScreen+ newborn screening v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
BabyScreen+ newborn screening v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
BabyScreen+ newborn screening v0.0 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
BabyScreen+ newborn screening v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
BabyScreen+ newborn screening v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 THBS1 Zornitza Stark gene: THBS1 was added
gene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBS1 were set to Pulmonary hypertension
BabyScreen+ newborn screening v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
BabyScreen+ newborn screening v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G
BabyScreen+ newborn screening v0.0 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
BabyScreen+ newborn screening v0.0 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
BabyScreen+ newborn screening v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
BabyScreen+ newborn screening v0.0 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
BabyScreen+ newborn screening v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
BabyScreen+ newborn screening v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
BabyScreen+ newborn screening v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
BabyScreen+ newborn screening v0.0 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
BabyScreen+ newborn screening v0.0 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
BabyScreen+ newborn screening v0.0 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
BabyScreen+ newborn screening v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities
BabyScreen+ newborn screening v0.0 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
BabyScreen+ newborn screening v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
BabyScreen+ newborn screening v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
BabyScreen+ newborn screening v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
BabyScreen+ newborn screening v0.0 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
BabyScreen+ newborn screening v0.0 SLC16A1 Zornitza Stark Source Expert Review Red was added to SLC16A1.
Source BabySeq Category C gene was added to SLC16A1.
Added phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 SFTPA2 Zornitza Stark gene: SFTPA2 was added
gene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic
BabyScreen+ newborn screening v0.0 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
BabyScreen+ newborn screening v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
BabyScreen+ newborn screening v0.0 SCN4A Zornitza Stark Source Expert Review Red was added to SCN4A.
Source BabySeq Category A gene was added to SCN4A.
Source BabySeq Category C gene was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
BabyScreen+ newborn screening v0.0 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome
BabyScreen+ newborn screening v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital
BabyScreen+ newborn screening v0.0 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
BabyScreen+ newborn screening v0.0 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
BabyScreen+ newborn screening v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 PHOX2A Zornitza Stark gene: PHOX2A was added
gene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
BabyScreen+ newborn screening v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
BabyScreen+ newborn screening v0.0 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
BabyScreen+ newborn screening v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III
BabyScreen+ newborn screening v0.0 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
BabyScreen+ newborn screening v0.0 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 MYOZ2 Zornitza Stark gene: MYOZ2 was added
gene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 MYOT Zornitza Stark gene: MYOT was added
gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOT were set to Myofibrillar myopathy
BabyScreen+ newborn screening v0.0 MYOM1 Zornitza Stark gene: MYOM1 was added
gene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
BabyScreen+ newborn screening v0.0 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
BabyScreen+ newborn screening v0.0 MYLK2 Zornitza Stark gene: MYLK2 was added
gene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYLK2 was set to Unknown
Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect
BabyScreen+ newborn screening v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
BabyScreen+ newborn screening v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis
BabyScreen+ newborn screening v0.0 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
BabyScreen+ newborn screening v0.0 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
BabyScreen+ newborn screening v0.0 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
BabyScreen+ newborn screening v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
BabyScreen+ newborn screening v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
BabyScreen+ newborn screening v0.0 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED13L were set to Transposition of great arteries
BabyScreen+ newborn screening v0.0 MCCC2 Zornitza Stark Source Expert Review Red was added to MCCC2.
Source BabySeq Category B gene was added to MCCC2.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
BabyScreen+ newborn screening v0.0 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
BabyScreen+ newborn screening v0.0 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
BabyScreen+ newborn screening v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
BabyScreen+ newborn screening v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
BabyScreen+ newborn screening v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
BabyScreen+ newborn screening v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
BabyScreen+ newborn screening v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
BabyScreen+ newborn screening v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 HESX1 Zornitza Stark Source Expert Review Red was added to HESX1.
Source BabySeq Category C gene was added to HESX1.
Mode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pituitary hypoplasia for gene: HESX1
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
BabyScreen+ newborn screening v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease
BabyScreen+ newborn screening v0.0 GFER Zornitza Stark gene: GFER was added
gene: GFER was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
BabyScreen+ newborn screening v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF1 were set to Congenital heart defects
BabyScreen+ newborn screening v0.0 GATAD1 Zornitza Stark gene: GATAD1 was added
gene: GATAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B
BabyScreen+ newborn screening v0.0 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXH1 were set to Congenital heart defects
BabyScreen+ newborn screening v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome
BabyScreen+ newborn screening v0.0 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLNC were set to Myofibrillar myopathy
BabyScreen+ newborn screening v0.0 FLG Zornitza Stark gene: FLG was added
gene: FLG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to Ichthyosis vulgaris
BabyScreen+ newborn screening v0.0 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Myofibrillar myopathy; Emery-Dreifuss muscular dystrophy
BabyScreen+ newborn screening v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBLN5 were set to Age-related macular degeneration; Cutis laxa
BabyScreen+ newborn screening v0.0 FAM111B Zornitza Stark gene: FAM111B was added
gene: FAM111B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
BabyScreen+ newborn screening v0.0 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1
BabyScreen+ newborn screening v0.0 DPP6 Zornitza Stark gene: DPP6 was added
gene: DPP6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2
BabyScreen+ newborn screening v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DLC1 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia
BabyScreen+ newborn screening v0.0 DAPK3 Zornitza Stark gene: DAPK3 was added
gene: DAPK3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAPK3 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
BabyScreen+ newborn screening v0.0 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CTF1 was set to Unknown
Phenotypes for gene: CTF1 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy
BabyScreen+ newborn screening v0.0 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12
BabyScreen+ newborn screening v0.0 CSF2RB Zornitza Stark gene: CSF2RB was added
gene: CSF2RB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis
BabyScreen+ newborn screening v0.0 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids
BabyScreen+ newborn screening v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect
BabyScreen+ newborn screening v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
BabyScreen+ newborn screening v0.0 COQ2 Zornitza Stark Source Expert Review Red was added to COQ2.
Source BabySeq Category C gene was added to COQ2.
Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 CITED2 Zornitza Stark gene: CITED2 was added
gene: CITED2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CITED2 were set to Congenital heart defects
BabyScreen+ newborn screening v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Larsen syndrome
BabyScreen+ newborn screening v0.0 CHRM2 Zornitza Stark gene: CHRM2 was added
gene: CHRM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Primary microcephaly
BabyScreen+ newborn screening v0.0 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant
BabyScreen+ newborn screening v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 CAVIN4 Zornitza Stark gene: CAVIN4 was added
gene: CAVIN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy
BabyScreen+ newborn screening v0.0 BVES Zornitza Stark gene: BVES was added
gene: BVES was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BVES were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 BRCA2 Zornitza Stark Source Expert Review Red was added to BRCA2.
Source BabySeq Category A gene was added to BRCA2.
Source BabySeq Category C gene was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 for gene: BRCA2
Rating Changed from Green List (high evidence) to Red List (low evidence)
BabyScreen+ newborn screening v0.0 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1
BabyScreen+ newborn screening v0.0 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
BabyScreen+ newborn screening v0.0 BCL9 Zornitza Stark gene: BCL9 was added
gene: BCL9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BCL9 were set to Congenital heart disease
BabyScreen+ newborn screening v0.0 BARD1 Zornitza Stark gene: BARD1 was added
gene: BARD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Tetralogy of Fallot
BabyScreen+ newborn screening v0.0 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
BabyScreen+ newborn screening v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism
BabyScreen+ newborn screening v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive
BabyScreen+ newborn screening v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome
BabyScreen+ newborn screening v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome
BabyScreen+ newborn screening v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy
BabyScreen+ newborn screening v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies
BabyScreen+ newborn screening v0.0 AP1S3 Zornitza Stark gene: AP1S3 was added
gene: AP1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AP1S3 were set to Pustular psoriasis
BabyScreen+ newborn screening v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia
BabyScreen+ newborn screening v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis
BabyScreen+ newborn screening v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis
BabyScreen+ newborn screening v0.0 ACTN2 Zornitza Stark gene: ACTN2 was added
gene: ACTN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Atrial septal defect; Cardiomyopathy, familial hypertrophic; Left ventricular noncompaction; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection
BabyScreen+ newborn screening v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile
BabyScreen+ newborn screening v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia
BabyScreen+ newborn screening v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females
BabyScreen+ newborn screening v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTN were set to Centronuclear myopathy; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic
BabyScreen+ newborn screening v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI3 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated
BabyScreen+ newborn screening v0.0 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
BabyScreen+ newborn screening v0.0 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
BabyScreen+ newborn screening v0.0 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
BabyScreen+ newborn screening v0.0 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
BabyScreen+ newborn screening v0.0 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9
BabyScreen+ newborn screening v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-5 were set to Congenital heart disease
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 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 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 BMPR2 Zornitza Stark gene: BMPR2 was added
gene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary
BabyScreen+ newborn screening v0.0 AIP Zornitza Stark gene: AIP was added
gene: AIP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Pituitary adenoma
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 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 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 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome
BabyScreen+ newborn screening v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome
BabyScreen+ newborn screening v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
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 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4
BabyScreen+ newborn screening v0.0 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM4 were set to Cardiac conduction disease
BabyScreen+ newborn screening v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H
BabyScreen+ newborn screening v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1
BabyScreen+ newborn screening v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
BabyScreen+ newborn screening v0.0 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 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 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 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were set to Char syndrome
BabyScreen+ newborn screening v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
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 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 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710
BabyScreen+ newborn screening v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome
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 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 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome
BabyScreen+ newborn screening v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400
BabyScreen+ newborn screening v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia
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 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM # 234500
BabyScreen+ newborn screening v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#
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 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
BabyScreen+ newborn screening v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
BabyScreen+ newborn screening v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138
BabyScreen+ newborn screening v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
BabyScreen+ newborn screening v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140
BabyScreen+ newborn screening v0.0 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
BabyScreen+ newborn screening v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome
BabyScreen+ newborn screening v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
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 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)
BabyScreen+ newborn screening v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C
BabyScreen+ newborn screening v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
BabyScreen+ newborn screening v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E
BabyScreen+ newborn screening v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D
BabyScreen+ newborn screening v0.0 SFTPC Zornitza Stark gene: SFTPC was added
gene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
BabyScreen+ newborn screening v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary
BabyScreen+ newborn screening v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2
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 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
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 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 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome
BabyScreen+ newborn screening v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type
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 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary
BabyScreen+ newborn screening v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary
BabyScreen+ newborn screening v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome
BabyScreen+ newborn screening v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome
BabyScreen+ newborn screening v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome
BabyScreen+ newborn screening v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia
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 REN Zornitza Stark gene: REN was added
gene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis
BabyScreen+ newborn screening v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation
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 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP2 were set to 20967465; 23420520
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225
BabyScreen+ newborn screening v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome
BabyScreen+ newborn screening v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome
BabyScreen+ newborn screening v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455
BabyScreen+ newborn screening v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935
BabyScreen+ newborn screening v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome
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 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, MIM#262600
BabyScreen+ newborn screening v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
BabyScreen+ newborn screening v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Mental retardation
BabyScreen+ newborn screening v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, MIM#613038
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 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia
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 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent , MIM#617290
BabyScreen+ newborn screening v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked
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 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex
BabyScreen+ newborn screening v0.0 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset
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 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM# 614652
BabyScreen+ newborn screening v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
BabyScreen+ newborn screening v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2
BabyScreen+ newborn screening v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency
BabyScreen+ newborn screening v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
BabyScreen+ newborn screening v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked
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 OSMR Zornitza Stark gene: OSMR was added
gene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous
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 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 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572
Phenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
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 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM# 618116
BabyScreen+ newborn screening v0.0 MYO3A Zornitza Stark gene: MYO3A was added
gene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO3A were set to Sensorineural hearing loss
BabyScreen+ newborn screening v0.0 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO15A were set to Sensorineural hearing loss
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 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 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 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1
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 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency
BabyScreen+ newborn screening v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
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 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
BabyScreen+ newborn screening v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive
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 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 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive
BabyScreen+ newborn screening v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome
BabyScreen+ newborn screening v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome
BabyScreen+ newborn screening v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome
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 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome
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 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 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750
BabyScreen+ newborn screening v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome
BabyScreen+ newborn screening v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome
BabyScreen+ newborn screening v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient
BabyScreen+ newborn screening v0.0 KIF21A Zornitza Stark gene: KIF21A was added
gene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital
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 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome
BabyScreen+ newborn screening v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome
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 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 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 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
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 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014
BabyScreen+ newborn screening v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II
BabyScreen+ newborn screening v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to CARASIL syndrome
BabyScreen+ newborn screening v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome
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 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 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC
BabyScreen+ newborn screening v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
BabyScreen+ newborn screening v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss
BabyScreen+ newborn screening v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220
BabyScreen+ newborn screening v0.0 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II
BabyScreen+ newborn screening v0.0 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641
BabyScreen+ newborn screening v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I
BabyScreen+ newborn screening v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
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 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness
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 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
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 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670
BabyScreen+ newborn screening v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA4 were set to Congenital heart defects
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 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
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 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
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 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
BabyScreen+ newborn screening v0.0 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 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 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I
BabyScreen+ newborn screening v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata 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 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
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 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome
BabyScreen+ newborn screening v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
BabyScreen+ newborn screening v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, MIM#231680
BabyScreen+ newborn screening v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, MIM#231680
BabyScreen+ newborn screening v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680
BabyScreen+ newborn screening v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESRRB were set to Hearing loss
BabyScreen+ newborn screening v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
BabyScreen+ newborn screening v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
BabyScreen+ newborn screening v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
BabyScreen+ newborn screening v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
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 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 EDN3 Zornitza Stark gene: EDN3 was added
gene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome
BabyScreen+ newborn screening v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
BabyScreen+ newborn screening v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
BabyScreen+ newborn screening v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B
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 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 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
BabyScreen+ newborn screening v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
BabyScreen+ newborn screening v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200
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 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DFNB59 were set to Hearing loss
BabyScreen+ newborn screening v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DFNA5 were set to Hearing loss
BabyScreen+ newborn screening v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM#608643
BabyScreen+ newborn screening v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
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 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF2RA were set to 25425184; 18955570; 20622029
Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
BabyScreen+ newborn screening v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
BabyScreen+ newborn screening v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120
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 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 , MIM#614654
BabyScreen+ newborn screening v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016
BabyScreen+ newborn screening v0.0 COQ7 Zornitza Stark gene: COQ7 was added
gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733
BabyScreen+ newborn screening v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650
BabyScreen+ newborn screening v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
BabyScreen+ newborn screening v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM# 607426
BabyScreen+ newborn screening v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
BabyScreen+ newborn screening v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
BabyScreen+ newborn screening v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
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 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
BabyScreen+ newborn screening v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
BabyScreen+ newborn screening v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
BabyScreen+ newborn screening v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFC1 were set to Congenital heart defects
BabyScreen+ newborn screening v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
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 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
BabyScreen+ newborn screening v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
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 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
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 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
BabyScreen+ newborn screening v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
BabyScreen+ newborn screening v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
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 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751
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 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy
BabyScreen+ newborn screening v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706
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 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
BabyScreen+ newborn screening v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
BabyScreen+ newborn screening v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
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 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300
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 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900
BabyScreen+ newborn screening v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2
BabyScreen+ newborn screening v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)
BabyScreen+ newborn screening v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
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 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
BabyScreen+ newborn screening v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome
BabyScreen+ newborn screening v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800
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 AR Zornitza Stark gene: AR was added
gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068
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 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936
BabyScreen+ newborn screening v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
BabyScreen+ newborn screening v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
BabyScreen+ newborn screening v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
BabyScreen+ newborn screening v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALX4 were set to Parietal foramina 2
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 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
BabyScreen+ newborn screening v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500
BabyScreen+ newborn screening v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
BabyScreen+ newborn screening v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
BabyScreen+ newborn screening v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
BabyScreen+ newborn screening v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria
BabyScreen+ newborn screening v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376
BabyScreen+ newborn screening v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant
BabyScreen+ newborn screening v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
BabyScreen+ newborn screening v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
BabyScreen+ newborn screening v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473
BabyScreen+ newborn screening v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Stargardt disease
BabyScreen+ newborn screening v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3
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