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Genomic newborn screening: BabyScreen+ v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GLRB Zornitza Stark Source Expert Review Red was added to GLRB.
Source BabySeq Category C gene was added to GLRB.
Added phenotypes Hyperekplexia 2, autosomal recessive for gene: GLRB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GLIS3 Zornitza Stark Source Expert Review Red was added to GLIS3.
Source BabySeq Category C gene was added to GLIS3.
Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly-9
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GDNF Zornitza Stark gene: GDNF was added
gene: GDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDNF were set to Hirschsprung disease; Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCSH were set to Glycine encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form; Glycogen storage disease IV
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA6 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GATA5 Zornitza Stark gene: GATA5 was added
gene: GATA5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA5 were set to Familial atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GATA1 Zornitza Stark Source Expert Review Red was added to GATA1.
Source BabySeq Category A gene was added to GATA1.
Source BabySeq Category C gene was added to GATA1.
Added phenotypes Dyserythropoietic anemia with thrombocytopenia; Porphyria, congenital erythropoietic for gene: GATA1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised
Genomic newborn screening: BabyScreen+ v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 FSCN2 Zornitza Stark gene: FSCN2 was added
gene: FSCN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa
Genomic newborn screening: BabyScreen+ v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome
Genomic newborn screening: BabyScreen+ v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome
Genomic newborn screening: BabyScreen+ v0.0 FOXN1 Zornitza Stark Source Expert Review Red was added to FOXN1.
Source BabySeq Category C gene was added to FOXN1.
Mode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital alopecia with T-cell immunodeficiency for gene: FOXN1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FMO3 Zornitza Stark gene: FMO3 was added
gene: FMO3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMO3 were set to Trimethylaminuria
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FKBPL Zornitza Stark gene: FKBPL was added
gene: FKBPL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FKBPL were set to Infertility
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to Fanconi anaemia
Genomic newborn screening: BabyScreen+ v0.0 FANCL Zornitza Stark Source Expert Review Red was added to FANCL.
Source BabySeq Category C gene was added to FANCL.
Added phenotypes Fanconi anaemia for gene: FANCL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FANCF Zornitza Stark Source Expert Review Red was added to FANCF.
Source BabySeq Category C gene was added to FANCF.
Added phenotypes Fanconi anaemia for gene: FANCF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 FANCE Zornitza Stark Source Expert Review Red was added to FANCE.
Source BabySeq Category C gene was added to FANCE.
Added phenotypes Fanconi anaemia for gene: FANCE
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FAAH2 Zornitza Stark gene: FAAH2 was added
gene: FAAH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAAH2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 F13B Zornitza Stark Source Expert list was added to F13B.
Source Expert Review Red was added to F13B.
Added phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B
Publications for gene F13B were updated from to PMID: 31013569
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ERCC4 Zornitza Stark Source Expert Review Red was added to ERCC4.
Source BabySeq Category C gene was added to ERCC4.
Added phenotypes Xeroderma pigmentosum for gene: ERCC4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPHX1 were set to Hypercholanemia, familial
Genomic newborn screening: BabyScreen+ v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPB42 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter
Genomic newborn screening: BabyScreen+ v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFHC1 were set to 33181902; 28370826; 33969125; 29750216; 31056551
Phenotypes for gene: EFHC1 were set to {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
Genomic newborn screening: BabyScreen+ v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB
Genomic newborn screening: BabyScreen+ v0.0 ECE1 Zornitza Stark gene: ECE1 was added
gene: ECE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ECE1 were set to Hirschsprung disease
Genomic newborn screening: BabyScreen+ v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DTHD1 Zornitza Stark gene: DTHD1 was added
gene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy
Genomic newborn screening: BabyScreen+ v0.0 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset
Genomic newborn screening: BabyScreen+ v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DIABLO Zornitza Stark gene: DIABLO was added
gene: DIABLO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis
Genomic newborn screening: BabyScreen+ v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical
Genomic newborn screening: BabyScreen+ v0.0 DECR1 Zornitza Stark gene: DECR1 was added
gene: DECR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency
Genomic newborn screening: BabyScreen+ v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type
Genomic newborn screening: BabyScreen+ v0.0 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DCTN1 Zornitza Stark gene: DCTN1 was added
gene: DCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 DBH Zornitza Stark gene: DBH was added
gene: DBH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Cholestasis, severe
Genomic newborn screening: BabyScreen+ v0.0 CYP7A1 Zornitza Stark gene: CYP7A1 was added
gene: CYP7A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7A1 were set to Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Genomic newborn screening: BabyScreen+ v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYCS were set to Thrombocytopenia 4
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CSTA Zornitza Stark gene: CSTA was added
gene: CSTA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to Exfoliative ichthyosis
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CR2 Zornitza Stark gene: CR2 was added
gene: CR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CR2 were set to Hypogammaglobulinaemia
Genomic newborn screening: BabyScreen+ v0.0 CPZ Zornitza Stark gene: CPZ was added
gene: CPZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPZ were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 CPOX Zornitza Stark Source Expert Review Red was added to CPOX.
Source BabySeq Category C gene was added to CPOX.
Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coproporphyria for gene: CPOX
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 COQ6 Zornitza Stark Source Expert Review Red was added to COQ6.
Source BabySeq Category C gene was added to COQ6.
Added phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe
Genomic newborn screening: BabyScreen+ v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to Congenital disorder of glycosylation, type IIj
Genomic newborn screening: BabyScreen+ v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Phenotypes for gene: CNTNAP2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short-bowel syndrome
Genomic newborn screening: BabyScreen+ v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Genomic newborn screening: BabyScreen+ v0.0 CLCN1 Zornitza Stark gene: CLCN1 was added
gene: CLCN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CHRNB1 Zornitza Stark Source Expert Review Red was added to CHRNB1.
Source BabySeq Category C gene was added to CHRNB1.
Added phenotypes Congenital myasthenic syndrome for gene: CHRNB1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CHRNA2 Zornitza Stark gene: CHRNA2 was added
gene: CHRNA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRNA2 were set to Epilepsy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHEK2 were set to Breast cancer, susceptibility to
Genomic newborn screening: BabyScreen+ v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR4 was set to Unknown
Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to
Genomic newborn screening: BabyScreen+ v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CFD Zornitza Stark Source Expert Review Red was added to CFD.
Source BabySeq Category C gene was added to CFD.
Added phenotypes Complement factor D deficiency for gene: CFD
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CFB Zornitza Stark Source Expert Review Red was added to CFB.
Source BabySeq Category C gene was added to CFB.
Added phenotypes Haemolytic uraemic syndrome for gene: CFB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDON were set to Holoprosencephaly
Genomic newborn screening: BabyScreen+ v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Orofacial clefts; Gastric cancer
Genomic newborn screening: BabyScreen+ v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD96 were set to C syndrome
Genomic newborn screening: BabyScreen+ v0.0 CD46 Zornitza Stark gene: CD46 was added
gene: CD46 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD46 were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 CD36 Zornitza Stark gene: CD36 was added
gene: CD36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD36 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD36 were set to Platelet glycoprotein IV deficiency
Genomic newborn screening: BabyScreen+ v0.0 CD2AP Zornitza Stark gene: CD2AP was added
gene: CD2AP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3
Genomic newborn screening: BabyScreen+ v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus
Genomic newborn screening: BabyScreen+ v0.0 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores
Genomic newborn screening: BabyScreen+ v0.0 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC50 were set to 27911912; 24875298; 17503326
Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CASP10 Zornitza Stark gene: CASP10 was added
gene: CASP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome II
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CACNB2 Zornitza Stark gene: CACNB2 was added
gene: CACNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNB2 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 CACNA2D1 Zornitza Stark gene: CACNA2D1 was added
gene: CACNA2D1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA2D1 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia
Genomic newborn screening: BabyScreen+ v0.0 CACNA1D Zornitza Stark Source Expert Review Red was added to CACNA1D.
Source BabySeq Category C gene was added to CACNA1D.
Mode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark Source Expert Review Red was added to C3.
Source BabySeq Category C gene was added to C3.
Added phenotypes Haemolytic uraemic syndrome for gene: C3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BPGM Zornitza Stark gene: BPGM was added
gene: BPGM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9
Genomic newborn screening: BabyScreen+ v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8
Genomic newborn screening: BabyScreen+ v0.0 BDNF Zornitza Stark gene: BDNF was added
gene: BDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Progeroid syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT1 were set to CDG syndrome type IId
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AXL Zornitza Stark gene: AXL was added
gene: AXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1
Genomic newborn screening: BabyScreen+ v0.0 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-Ribosiduria
Genomic newborn screening: BabyScreen+ v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Genomic newborn screening: BabyScreen+ v0.0 ASCL1 Zornitza Stark gene: ASCL1 was added
gene: ASCL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASCL1 were set to Congenital central hypoventilation
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 APP Zornitza Stark gene: APP was added
gene: APP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Alzheimer disease 1, familial
Genomic newborn screening: BabyScreen+ v0.0 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AMPD1 Zornitza Stark gene: AMPD1 was added
gene: AMPD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency
Genomic newborn screening: BabyScreen+ v0.0 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
Genomic newborn screening: BabyScreen+ v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii
Genomic newborn screening: BabyScreen+ v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P
Genomic newborn screening: BabyScreen+ v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Aldolase A deficiency
Genomic newborn screening: BabyScreen+ v0.0 ALDH4A1 Zornitza Stark gene: ALDH4A1 was added
gene: ALDH4A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II
Genomic newborn screening: BabyScreen+ v0.0 ALDH1A2 Zornitza Stark gene: ALDH1A2 was added
gene: ALDH1A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus
Genomic newborn screening: BabyScreen+ v0.0 AKAP9 Zornitza Stark gene: AKAP9 was added
gene: AKAP9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKAP9 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 AHSP Zornitza Stark gene: AHSP was added
gene: AHSP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHSP were set to Thalassaemia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3
Genomic newborn screening: BabyScreen+ v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc
Genomic newborn screening: BabyScreen+ v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease
Genomic newborn screening: BabyScreen+ v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACVR2B were set to Left-right axis malformation
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA1 were set to Nemaline myopathy; Congenital myopathy with fiber type disproportion
Genomic newborn screening: BabyScreen+ v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACBD5 were set to Thrombocytopaenia
Genomic newborn screening: BabyScreen+ v0.0 ACADSB Zornitza Stark gene: ACADSB was added
gene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Genomic newborn screening: BabyScreen+ v0.0 ACADL Zornitza Stark gene: ACADL was added
gene: ACADL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADL were set to Sudden infant death
Genomic newborn screening: BabyScreen+ v0.0 ABCD4 Zornitza Stark Source Expert Review Red was added to ABCD4.
Source BabySeq Category C gene was added to ABCD4.
Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia
Genomic newborn screening: BabyScreen+ v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome
Genomic newborn screening: BabyScreen+ v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VWF were set to von Willebrand disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERT were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 SNTA1 Zornitza Stark gene: SNTA1 was added
gene: SNTA1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNTA1 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SCN5A Zornitza Stark Source Expert Review Amber was added to SCN5A.
Source BabySeq Category B gene was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome
Genomic newborn screening: BabyScreen+ v0.0 PCSK9 Zornitza Stark gene: PCSK9 was added
gene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYLK Zornitza Stark gene: MYLK was added
gene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Genomic newborn screening: BabyScreen+ v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to gNBS. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1 Zornitza Stark Source BabySeq Category B gene was added to KCNQ1.
Source Expert Review Amber was added to KCNQ1.
Source BabySeq Category A gene was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.0 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNH2 were set to Long QT syndrome-2
Genomic newborn screening: BabyScreen+ v0.0 KCNE2 Zornitza Stark gene: KCNE2 was added
gene: KCNE2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE2 were set to Long QT syndrome-6
Genomic newborn screening: BabyScreen+ v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene
Mode of inheritance for gene: KCNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE1 were set to Long QT syndrome-5; Jervell and Lange-Nielsen syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNA5 Zornitza Stark gene: KCNA5 was added
gene: KCNA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GPD1L Zornitza Stark gene: GPD1L was added
gene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GPD1L were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 GJA5 Zornitza Stark gene: GJA5 was added
gene: GJA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 GCH1 Zornitza Stark Source Expert Review Amber was added to GCH1.
Source BabySeq Category B gene was added to GCH1.
Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia, dopa-responsive for gene: GCH1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 DKC1 Zornitza Stark Source Expert Review Amber was added to DKC1.
Source BabySeq Category B gene was added to DKC1.
Added phenotypes Dyskeratosis congenita for gene: DKC1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminaemia
Genomic newborn screening: BabyScreen+ v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma
Genomic newborn screening: BabyScreen+ v0.0 CACNA1C Zornitza Stark Source Expert Review Amber was added to CACNA1C.
Source BabySeq Category B gene was added to CACNA1C.
Added phenotypes Brugada syndrome for gene: CACNA1C
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic
Genomic newborn screening: BabyScreen+ v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome
Genomic newborn screening: BabyScreen+ v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy
Genomic newborn screening: BabyScreen+ v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Heterotaxy
Genomic newborn screening: BabyScreen+ v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5
Genomic newborn screening: BabyScreen+ v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome
Genomic newborn screening: BabyScreen+ v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency
Genomic newborn screening: BabyScreen+ v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Genomic newborn screening: BabyScreen+ v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Genomic newborn screening: BabyScreen+ v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 32303682; 21205863; 29514627
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Genomic newborn screening: BabyScreen+ v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Genomic newborn screening: BabyScreen+ v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
Genomic newborn screening: BabyScreen+ v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome
Genomic newborn screening: BabyScreen+ v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome
Genomic newborn screening: BabyScreen+ v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Vitamin D-dependent rickets
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCAN were set to Wagner syndrome
Genomic newborn screening: BabyScreen+ v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
Genomic newborn screening: BabyScreen+ v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic
Genomic newborn screening: BabyScreen+ v0.0 UROD Zornitza Stark gene: UROD was added
gene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic
Genomic newborn screening: BabyScreen+ v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Genomic newborn screening: BabyScreen+ v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Nephropathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anaemia, complementation group T, MIM# 616435
Genomic newborn screening: BabyScreen+ v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1
Genomic newborn screening: BabyScreen+ v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency
Genomic newborn screening: BabyScreen+ v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150
Genomic newborn screening: BabyScreen+ v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome
Genomic newborn screening: BabyScreen+ v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820
Genomic newborn screening: BabyScreen+ v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946
Genomic newborn screening: BabyScreen+ v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to Hypothyroidism
Genomic newborn screening: BabyScreen+ v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254
Genomic newborn screening: BabyScreen+ v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile
Genomic newborn screening: BabyScreen+ v0.0 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis
Genomic newborn screening: BabyScreen+ v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A
Genomic newborn screening: BabyScreen+ v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2
Genomic newborn screening: BabyScreen+ v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease
Genomic newborn screening: BabyScreen+ v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Genomic newborn screening: BabyScreen+ v0.0 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMIE were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC1 were set to Deafness
Genomic newborn screening: BabyScreen+ v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome
Genomic newborn screening: BabyScreen+ v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRB were set to Thyroid hormone resistance
Genomic newborn screening: BabyScreen+ v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6
Genomic newborn screening: BabyScreen+ v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407
Genomic newborn screening: BabyScreen+ v0.0 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type
Genomic newborn screening: BabyScreen+ v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome
Genomic newborn screening: BabyScreen+ v0.0 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECTA were set to Deafness
Genomic newborn screening: BabyScreen+ v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant
Genomic newborn screening: BabyScreen+ v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Genomic newborn screening: BabyScreen+ v0.0 TCF3 Zornitza Stark gene: TCF3 was added
gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
Genomic newborn screening: BabyScreen+ v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, MIM#201400
Genomic newborn screening: BabyScreen+ v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome
Genomic newborn screening: BabyScreen+ v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX1 were set to DiGeorge syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600
Genomic newborn screening: BabyScreen+ v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency
Genomic newborn screening: BabyScreen+ v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulphite oxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Genomic newborn screening: BabyScreen+ v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
Genomic newborn screening: BabyScreen+ v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Genomic newborn screening: BabyScreen+ v0.0 STS Zornitza Stark gene: STS was added
gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked
Genomic newborn screening: BabyScreen+ v0.0 STRC Zornitza Stark gene: STRC was added
gene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRC were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic
Genomic newborn screening: BabyScreen+ v0.0 STK11 Zornitza Stark gene: STK11 was added
gene: STK11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Genomic newborn screening: BabyScreen+ v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
Genomic newborn screening: BabyScreen+ v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTB were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTA1 were set to Elliptocytosis
Genomic newborn screening: BabyScreen+ v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency
Genomic newborn screening: BabyScreen+ v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency
Genomic newborn screening: BabyScreen+ v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SNAP25 Zornitza Stark gene: SNAP25 was added
gene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330
Genomic newborn screening: BabyScreen+ v0.0 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMPX were set to Deafness, X-linked
Genomic newborn screening: BabyScreen+ v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome
Genomic newborn screening: BabyScreen+ v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Christianson syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria
Genomic newborn screening: BabyScreen+ v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance
Genomic newborn screening: BabyScreen+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked
Genomic newborn screening: BabyScreen+ v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500
Genomic newborn screening: BabyScreen+ v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Genomic newborn screening: BabyScreen+ v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
Genomic newborn screening: BabyScreen+ v0.0 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were set to Renal glucosuria
Genomic newborn screening: BabyScreen+ v0.0 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824
Genomic newborn screening: BabyScreen+ v0.0 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy
Genomic newborn screening: BabyScreen+ v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A1 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ 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#
Genomic newborn screening: BabyScreen+ v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV
Genomic newborn screening: BabyScreen+ v0.0 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria
Genomic newborn screening: BabyScreen+ v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Genomic newborn screening: BabyScreen+ v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Genomic newborn screening: BabyScreen+ v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220
Genomic newborn screening: BabyScreen+ v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia
Genomic newborn screening: BabyScreen+ v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Genomic newborn screening: BabyScreen+ v0.0 SLC27A4 Zornitza Stark gene: SLC27A4 was added
gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B
Genomic newborn screening: BabyScreen+ v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia
Genomic newborn screening: BabyScreen+ v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Genomic newborn screening: BabyScreen+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483
Genomic newborn screening: BabyScreen+ v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile
Genomic newborn screening: BabyScreen+ v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Genomic newborn screening: BabyScreen+ v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021
Genomic newborn screening: BabyScreen+ v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy
Genomic newborn screening: BabyScreen+ v0.0 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome
Genomic newborn screening: BabyScreen+ v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX3 were set to Holoprosencephaly-2
Genomic newborn screening: BabyScreen+ v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SI Zornitza Stark gene: SI was added
gene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Genomic newborn screening: BabyScreen+ v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHH were set to Holoprosencephaly-3
Genomic newborn screening: BabyScreen+ v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome
Genomic newborn screening: BabyScreen+ v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350
Genomic newborn screening: BabyScreen+ v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350
Genomic newborn screening: BabyScreen+ v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM# 617938
Genomic newborn screening: BabyScreen+ v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721
Genomic newborn screening: BabyScreen+ v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
Genomic newborn screening: BabyScreen+ v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to Episodic pain syndrome
Genomic newborn screening: BabyScreen+ v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901
Genomic newborn screening: BabyScreen+ v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RS1 Zornitza Stark gene: RS1 was added
gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RS1 were set to Retinoschisis, X linked
Genomic newborn screening: BabyScreen+ v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM# 612563
Genomic newborn screening: BabyScreen+ v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anaemia 13, MIM# 615909
Genomic newborn screening: BabyScreen+ v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Genomic newborn screening: BabyScreen+ v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anaemia 17, MIM# 617409
Genomic newborn screening: BabyScreen+ v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anaemia, MM#613309
Genomic newborn screening: BabyScreen+ v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-Blackfan anaemia, MIM#610629
Genomic newborn screening: BabyScreen+ v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650
Genomic newborn screening: BabyScreen+ v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527
Genomic newborn screening: BabyScreen+ v0.0 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anaemia 20, MIM# 618313
Genomic newborn screening: BabyScreen+ v0.0 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anemia
Genomic newborn screening: BabyScreen+ v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
Genomic newborn screening: BabyScreen+ v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anaemia, MIM#612561
Genomic newborn screening: BabyScreen+ v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM# 612528
Genomic newborn screening: BabyScreen+ v0.0 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM# 618312
Genomic newborn screening: BabyScreen+ v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anaemia 16 , MIM# 617408
Genomic newborn screening: BabyScreen+ v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11 , MIM# 614900
Genomic newborn screening: BabyScreen+ v0.0 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia 18 , MIM# 618310
Genomic newborn screening: BabyScreen+ v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anaemia 12 , MIM# 615550
Genomic newborn screening: BabyScreen+ v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anaemia, MIM#612562
Genomic newborn screening: BabyScreen+ v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Retinitis pigmentosa
Genomic newborn screening: BabyScreen+ v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ROR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ROR2 were set to Robinow syndrome; Brachydactyly, type B1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B , MIM#209920
Genomic newborn screening: BabyScreen+ v0.0 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFWD3 were set to Fanconi anaemia, complementation group W, MIM# 617784
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome
Genomic newborn screening: BabyScreen+ v0.0 RDX Zornitza Stark gene: RDX was added
gene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784
Phenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022
Genomic newborn screening: BabyScreen+ v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome
Genomic newborn screening: BabyScreen+ v0.0 RB1 Zornitza Stark gene: RB1 was added
gene: RB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RB1 were set to Retinoblastoma
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326
Genomic newborn screening: BabyScreen+ v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Omenn syndrome, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, MIM#607624
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency, MIM#261630
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to Glycogen storage disease VI
Genomic newborn screening: BabyScreen+ v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM#261640
Genomic newborn screening: BabyScreen+ v0.0 PTPRC Zornitza Stark gene: PTPRC was added
gene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
Genomic newborn screening: BabyScreen+ v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, MIM# 614023
Genomic newborn screening: BabyScreen+ v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency , MIM# 610992
Genomic newborn screening: BabyScreen+ v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Protein S deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PRKDC Zornitza Stark gene: PRKDC was added
gene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966
Genomic newborn screening: BabyScreen+ v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis
Genomic newborn screening: BabyScreen+ v0.0 POU4F3 Zornitza Stark gene: POU4F3 was added
gene: POU4F3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POU4F3 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POU3F4 were set to Deafness, X-linked
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ v0.0 POLH Zornitza Stark gene: POLH was added
gene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLH were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders
Genomic newborn screening: BabyScreen+ v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090
Genomic newborn screening: BabyScreen+ v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
Genomic newborn screening: BabyScreen+ v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, MIM#266200
Genomic newborn screening: BabyScreen+ v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease
Genomic newborn screening: BabyScreen+ v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic kidney disease
Genomic newborn screening: BabyScreen+ v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Polycystic kidney disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PIK3CD Zornitza Stark gene: PIK3CD was added
gene: PIK3CD was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513
Genomic newborn screening: BabyScreen+ v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005
Genomic newborn screening: BabyScreen+ v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Genomic newborn screening: BabyScreen+ v0.0 PHKG2 Zornitza Stark gene: PHKG2 was added
gene: PHKG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHKB Zornitza Stark gene: PHKB was added
gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Genomic newborn screening: BabyScreen+ v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Genomic newborn screening: BabyScreen+ v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816
Genomic newborn screening: BabyScreen+ v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM# 614921
Genomic newborn screening: BabyScreen+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome
Genomic newborn screening: BabyScreen+ v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease 7
Genomic newborn screening: BabyScreen+ v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease
Genomic newborn screening: BabyScreen+ v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Genomic newborn screening: BabyScreen+ v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054
Genomic newborn screening: BabyScreen+ v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Aniridia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
Genomic newborn screening: BabyScreen+ v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200671
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, MIM#261600
Genomic newborn screening: BabyScreen+ v0.0 P2RY12 Zornitza Stark gene: P2RY12 was added
gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987
Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Genomic newborn screening: BabyScreen+ v0.0 OXCT1 Zornitza Stark gene: OXCT1 was added
gene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
Genomic newborn screening: BabyScreen+ v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 OTOF Zornitza Stark gene: OTOF was added
gene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOF were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 OTOA Zornitza Stark gene: OTOA was added
gene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOA were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1
Genomic newborn screening: BabyScreen+ v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome
Genomic newborn screening: BabyScreen+ v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous
Genomic newborn screening: BabyScreen+ v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome
Genomic newborn screening: BabyScreen+ v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800
Genomic newborn screening: BabyScreen+ v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome
Genomic newborn screening: BabyScreen+ v0.0 NR5A1 Zornitza Stark gene: NR5A1 was added
gene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965
Genomic newborn screening: BabyScreen+ v0.0 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
Genomic newborn screening: BabyScreen+ v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia
Genomic newborn screening: BabyScreen+ v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type
Genomic newborn screening: BabyScreen+ v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625
Genomic newborn screening: BabyScreen+ v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome
Genomic newborn screening: BabyScreen+ v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A
Genomic newborn screening: BabyScreen+ v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
Genomic newborn screening: BabyScreen+ v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Genomic newborn screening: BabyScreen+ v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome
Genomic newborn screening: BabyScreen+ v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function
Genomic newborn screening: BabyScreen+ v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis 2
Genomic newborn screening: BabyScreen+ v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis
Genomic newborn screening: BabyScreen+ v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306
Phenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
Genomic newborn screening: BabyScreen+ v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease
Genomic newborn screening: BabyScreen+ v0.0 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM# 613960
Genomic newborn screening: BabyScreen+ v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710
Genomic newborn screening: BabyScreen+ v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700
Genomic newborn screening: BabyScreen+ v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
Genomic newborn screening: BabyScreen+ v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310
Genomic newborn screening: BabyScreen+ v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B
Genomic newborn screening: BabyScreen+ v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Genomic newborn screening: BabyScreen+ v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYO6 Zornitza Stark gene: MYO6 was added
gene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO6 were set to Deafness
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Genomic newborn screening: BabyScreen+ v0.0 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377
Genomic newborn screening: BabyScreen+ v0.0 MUTYH Zornitza Stark gene: MUTYH was added
gene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis
Genomic newborn screening: BabyScreen+ v0.0 MUT Zornitza Stark Source BabySeq Category A gene was added to MUT.
Added phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT
Genomic newborn screening: BabyScreen+ v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325
Genomic newborn screening: BabyScreen+ v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinaemia
Genomic newborn screening: BabyScreen+ v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270
Genomic newborn screening: BabyScreen+ v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b
Genomic newborn screening: BabyScreen+ v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Genomic newborn screening: BabyScreen+ v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency
Genomic newborn screening: BabyScreen+ v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150
Genomic newborn screening: BabyScreen+ v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
Genomic newborn screening: BabyScreen+ v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410
Genomic newborn screening: BabyScreen+ v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Genomic newborn screening: BabyScreen+ v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110
Genomic newborn screening: BabyScreen+ v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy
Genomic newborn screening: BabyScreen+ v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome
Genomic newborn screening: BabyScreen+ v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Genomic newborn screening: BabyScreen+ v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Mediterranean fever, familial
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Intellectual disability
Genomic newborn screening: BabyScreen+ v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Rett syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV
Genomic newborn screening: BabyScreen+ v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha
Genomic newborn screening: BabyScreen+ v0.0 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAGI2 were set to Infantile spasms
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Genomic newborn screening: BabyScreen+ v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500
Genomic newborn screening: BabyScreen+ v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC
Genomic newborn screening: BabyScreen+ v0.0 LRTOMT Zornitza Stark gene: LRTOMT was added
gene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome
Genomic newborn screening: BabyScreen+ v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome
Genomic newborn screening: BabyScreen+ v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LOXHD1 Zornitza Stark gene: LOXHD1 was added
gene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail patella syndrome
Genomic newborn screening: BabyScreen+ v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000
Genomic newborn screening: BabyScreen+ v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation
Genomic newborn screening: BabyScreen+ v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LHFPL5 Zornitza Stark gene: LHFPL5 was added
gene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency
Genomic newborn screening: BabyScreen+ v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 LAMTOR2 Zornitza Stark gene: LAMTOR2 was added
gene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Genomic newborn screening: BabyScreen+ v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to Danon disease
Genomic newborn screening: BabyScreen+ v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 KRT6A Zornitza Stark gene: KRT6A was added
gene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6A were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex
Genomic newborn screening: BabyScreen+ v0.0 KRT17 Zornitza Stark gene: KRT17 was added
gene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT17 were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT16 Zornitza Stark gene: KRT16 was added
gene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT16 were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex
Genomic newborn screening: BabyScreen+ v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRAS were set to Noonan syndrome
Genomic newborn screening: BabyScreen+ v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Genomic newborn screening: BabyScreen+ v0.0 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic
Genomic newborn screening: BabyScreen+ v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM# 614959
Genomic newborn screening: BabyScreen+ v0.0 KCNQ4 Zornitza Stark gene: KCNQ4 was added
gene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA1 were set to Episodic ataxia type 1
Genomic newborn screening: BabyScreen+ v0.0 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KBTBD13 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome
Genomic newborn screening: BabyScreen+ v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802
Genomic newborn screening: BabyScreen+ v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAG1 were set to Alagille syndrome
Genomic newborn screening: BabyScreen+ v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IYD were set to 18765512; 30240412; 18434651
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800
Genomic newborn screening: BabyScreen+ v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500
Genomic newborn screening: BabyScreen+ v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
Genomic newborn screening: BabyScreen+ v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920
Genomic newborn screening: BabyScreen+ v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300
Genomic newborn screening: BabyScreen+ v0.0 IRAK4 Zornitza Stark gene: IRAK4 was added
gene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM# 607676
Genomic newborn screening: BabyScreen+ v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5
Genomic newborn screening: BabyScreen+ v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2
Genomic newborn screening: BabyScreen+ v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ILDR1 Zornitza Stark gene: ILDR1 was added
gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Genomic newborn screening: BabyScreen+ v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863
Genomic newborn screening: BabyScreen+ v0.0 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148
Genomic newborn screening: BabyScreen+ v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 IGLL1 Zornitza Stark gene: IGLL1 was added
gene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM# 613500
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
Genomic newborn screening: BabyScreen+ v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency
Genomic newborn screening: BabyScreen+ v0.0 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
Genomic newborn screening: BabyScreen+ v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency
Genomic newborn screening: BabyScreen+ v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Costello syndrome
Genomic newborn screening: BabyScreen+ v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Genomic newborn screening: BabyScreen+ v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Genomic newborn screening: BabyScreen+ v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Genomic newborn screening: BabyScreen+ v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710
Genomic newborn screening: BabyScreen+ v0.0 HOMER2 Zornitza Stark gene: HOMER2 was added
gene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700
Genomic newborn screening: BabyScreen+ v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGF were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 HGD Zornitza Stark gene: HGD was added
gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGD were set to Alkaptonuria
Genomic newborn screening: BabyScreen+ v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
Genomic newborn screening: BabyScreen+ v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease
Genomic newborn screening: BabyScreen+ v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541
Genomic newborn screening: BabyScreen+ v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Beta-thalassemia
Genomic newborn screening: BabyScreen+ v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131
Genomic newborn screening: BabyScreen+ v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131
Genomic newborn screening: BabyScreen+ v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015
Genomic newborn screening: BabyScreen+ v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM# 609016
Genomic newborn screening: BabyScreen+ v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Genomic newborn screening: BabyScreen+ v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GRXCR1 Zornitza Stark gene: GRXCR1 was added
gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326
Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
Genomic newborn screening: BabyScreen+ v0.0 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
Genomic newborn screening: BabyScreen+ v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II
Genomic newborn screening: BabyScreen+ v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762
Genomic newborn screening: BabyScreen+ v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRB were set to Hyperekplexia 2, MIM# 614619
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
Genomic newborn screening: BabyScreen+ v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome
Genomic newborn screening: BabyScreen+ v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Gangliosidosis GM1
Genomic newborn screening: BabyScreen+ v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Genomic newborn screening: BabyScreen+ v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GIF Zornitza Stark Source Expert list was added to GIF.
Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF
Genomic newborn screening: BabyScreen+ v0.0 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Genomic newborn screening: BabyScreen+ v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542
Genomic newborn screening: BabyScreen+ v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1
Genomic newborn screening: BabyScreen+ v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GFAP were set to Alexander disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485
Genomic newborn screening: BabyScreen+ v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease 1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038
Genomic newborn screening: BabyScreen+ v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Genomic newborn screening: BabyScreen+ v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Genomic newborn screening: BabyScreen+ v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM# 612736
Genomic newborn screening: BabyScreen+ v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to Galactose epimerase deficiency , MIM#230350
Genomic newborn screening: BabyScreen+ v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease
Genomic newborn screening: BabyScreen+ v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300
Genomic newborn screening: BabyScreen+ v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908
Genomic newborn screening: BabyScreen+ v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541
Genomic newborn screening: BabyScreen+ v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200
Genomic newborn screening: BabyScreen+ v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia
Genomic newborn screening: BabyScreen+ v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis
Genomic newborn screening: BabyScreen+ v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Genomic newborn screening: BabyScreen+ v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome
Genomic newborn screening: BabyScreen+ v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790
Genomic newborn screening: BabyScreen+ v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome
Genomic newborn screening: BabyScreen+ v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812
Genomic newborn screening: BabyScreen+ v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Kallmann syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenaemia
Genomic newborn screening: BabyScreen+ v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Genomic newborn screening: BabyScreen+ v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FAS Zornitza Stark gene: FAS was added
gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859
Genomic newborn screening: BabyScreen+ v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083
Genomic newborn screening: BabyScreen+ v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053
Genomic newborn screening: BabyScreen+ v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082
Genomic newborn screening: BabyScreen+ v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467
Genomic newborn screening: BabyScreen+ v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901
Genomic newborn screening: BabyScreen+ v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646
Genomic newborn screening: BabyScreen+ v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645
Genomic newborn screening: BabyScreen+ v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anaemia, MIM#300514
Genomic newborn screening: BabyScreen+ v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650
Genomic newborn screening: BabyScreen+ v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
Genomic newborn screening: BabyScreen+ v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia
Genomic newborn screening: BabyScreen+ v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinal dystrophy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700
Genomic newborn screening: BabyScreen+ v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Haemophilia B, MIM#306900
Genomic newborn screening: BabyScreen+ v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Haemophilia A, MIM#306700
Genomic newborn screening: BabyScreen+ v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500
Genomic newborn screening: BabyScreen+ v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055
Genomic newborn screening: BabyScreen+ v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679
Genomic newborn screening: BabyScreen+ v0.0 F13B Zornitza Stark gene: F13B was added
gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235
Genomic newborn screening: BabyScreen+ v0.0 F13A1 Zornitza Stark gene: F13A1 was added
gene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225
Genomic newborn screening: BabyScreen+ v0.0 F11 Zornitza Stark gene: F11 was added
gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F11 were set to Factor XI deficiency
Genomic newborn screening: BabyScreen+ v0.0 F10 Zornitza Stark gene: F10 was added
gene: F10 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600
Genomic newborn screening: BabyScreen+ v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Genomic newborn screening: BabyScreen+ v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1
Genomic newborn screening: BabyScreen+ v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
Genomic newborn screening: BabyScreen+ v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome
Genomic newborn screening: BabyScreen+ v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153
Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006
Genomic newborn screening: BabyScreen+ v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to Roberts syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome
Genomic newborn screening: BabyScreen+ v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM# 278760; Fanconi anaemia, complementation group Q, MIM# 615272
Genomic newborn screening: BabyScreen+ v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
Genomic newborn screening: BabyScreen+ v0.0 EPS8 Zornitza Stark gene: EPS8 was added
gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8 were set to deafness MIM#600205
Genomic newborn screening: BabyScreen+ v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700
Genomic newborn screening: BabyScreen+ v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, MIM#226980
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
Genomic newborn screening: BabyScreen+ v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
Genomic newborn screening: BabyScreen+ v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750
Genomic newborn screening: BabyScreen+ v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556
Genomic newborn screening: BabyScreen+ v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300
Genomic newborn screening: BabyScreen+ v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700
Genomic newborn screening: BabyScreen+ v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
Genomic newborn screening: BabyScreen+ v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1
Genomic newborn screening: BabyScreen+ v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900
Genomic newborn screening: BabyScreen+ v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM# 305000
Genomic newborn screening: BabyScreen+ v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Genomic newborn screening: BabyScreen+ v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
Genomic newborn screening: BabyScreen+ v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum
Genomic newborn screening: BabyScreen+ v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, MIM# 300067
Genomic newborn screening: BabyScreen+ v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554
Genomic newborn screening: BabyScreen+ v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I
Genomic newborn screening: BabyScreen+ v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Genomic newborn screening: BabyScreen+ v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910
Genomic newborn screening: BabyScreen+ v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated , MIM#202110
Genomic newborn screening: BabyScreen+ v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600
Genomic newborn screening: BabyScreen+ v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, MIM#306400
Genomic newborn screening: BabyScreen+ v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690
Genomic newborn screening: BabyScreen+ v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670
Genomic newborn screening: BabyScreen+ v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome
Genomic newborn screening: BabyScreen+ v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100
Genomic newborn screening: BabyScreen+ v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis
Genomic newborn screening: BabyScreen+ v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10
Genomic newborn screening: BabyScreen+ v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897
Genomic newborn screening: BabyScreen+ v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis
Genomic newborn screening: BabyScreen+ v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Coats plus syndrome
Genomic newborn screening: BabyScreen+ v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII
Genomic newborn screening: BabyScreen+ v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Crisponi syndrome
Genomic newborn screening: BabyScreen+ v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM# 615573
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034
Genomic newborn screening: BabyScreen+ v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A3 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284
Genomic newborn screening: BabyScreen+ v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134
Genomic newborn screening: BabyScreen+ v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I
Genomic newborn screening: BabyScreen+ v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A3 were set to Alport syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV
Genomic newborn screening: BabyScreen+ v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II
Genomic newborn screening: BabyScreen+ v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I
Genomic newborn screening: BabyScreen+ v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type
Genomic newborn screening: BabyScreen+ v0.0 COL13A1 Zornitza Stark gene: COL13A1 was added
gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720
Genomic newborn screening: BabyScreen+ v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 32174980; 23228021; 31572517
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi
Genomic newborn screening: BabyScreen+ v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276
Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Genomic newborn screening: BabyScreen+ v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia-3
Genomic newborn screening: BabyScreen+ v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A
Genomic newborn screening: BabyScreen+ v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Genomic newborn screening: BabyScreen+ v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
Genomic newborn screening: BabyScreen+ v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6
Genomic newborn screening: BabyScreen+ v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5
Genomic newborn screening: BabyScreen+ v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490
Genomic newborn screening: BabyScreen+ v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease
Genomic newborn screening: BabyScreen+ v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137
Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439
Genomic newborn screening: BabyScreen+ v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Pterygium syndrome
Genomic newborn screening: BabyScreen+ v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809
Genomic newborn screening: BabyScreen+ v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321
Genomic newborn screening: BabyScreen+ v0.0 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
Genomic newborn screening: BabyScreen+ v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462
Genomic newborn screening: BabyScreen+ v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy
Genomic newborn screening: BabyScreen+ v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210
Genomic newborn screening: BabyScreen+ v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700
Genomic newborn screening: BabyScreen+ v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060
Genomic newborn screening: BabyScreen+ v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912
Genomic newborn screening: BabyScreen+ v0.0 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
Genomic newborn screening: BabyScreen+ v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 33938610; 24882706
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Genomic newborn screening: BabyScreen+ v0.0 CDSN Zornitza Stark gene: CDSN was added
gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDSN were set to Hypotrichosis
Genomic newborn screening: BabyScreen+ v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D
Genomic newborn screening: BabyScreen+ v0.0 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Genomic newborn screening: BabyScreen+ v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
Genomic newborn screening: BabyScreen+ v0.0 CD79B Zornitza Stark gene: CD79B was added
gene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM# 612692
Genomic newborn screening: BabyScreen+ v0.0 CD79A Zornitza Stark gene: CD79A was added
gene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM# 613501
Genomic newborn screening: BabyScreen+ v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
Genomic newborn screening: BabyScreen+ v0.0 CD3E Zornitza Stark gene: CD3E was added
gene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3E were set to Immunodeficiency 18, MIM# 615615
Genomic newborn screening: BabyScreen+ v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
Genomic newborn screening: BabyScreen+ v0.0 GIF Zornitza Stark gene: GIF was added
gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000
Genomic newborn screening: BabyScreen+ v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Genomic newborn screening: BabyScreen+ v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
Genomic newborn screening: BabyScreen+ v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2
Genomic newborn screening: BabyScreen+ v0.0 CABP2 Zornitza Stark gene: CABP2 was added
gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 C9 Zornitza Stark gene: C9 was added
gene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C9 were set to C9 deficiency, MIM# 613825
Genomic newborn screening: BabyScreen+ v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, MIM# 613789
Genomic newborn screening: BabyScreen+ v0.0 C8A Zornitza Stark gene: C8A was added
gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790
Genomic newborn screening: BabyScreen+ v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, MIM# 610102
Genomic newborn screening: BabyScreen+ v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, MIM# 612446
Genomic newborn screening: BabyScreen+ v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536
Genomic newborn screening: BabyScreen+ v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779
Genomic newborn screening: BabyScreen+ v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755
Genomic newborn screening: BabyScreen+ v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054
Genomic newborn screening: BabyScreen+ v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1 605724
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900
Genomic newborn screening: BabyScreen+ v0.0 BLNK Zornitza Stark gene: BLNK was added
gene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502
Genomic newborn screening: BabyScreen+ v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Complex 3 deficiency
Genomic newborn screening: BabyScreen+ v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923
Genomic newborn screening: BabyScreen+ v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease
Genomic newborn screening: BabyScreen+ v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease
Genomic newborn screening: BabyScreen+ v0.0 BCHE Zornitza Stark gene: BCHE was added
gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BAAT were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome
Genomic newborn screening: BabyScreen+ v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800
Genomic newborn screening: BabyScreen+ v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1
Genomic newborn screening: BabyScreen+ v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease
Genomic newborn screening: BabyScreen+ v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, MIM# 309400
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA
Genomic newborn screening: BabyScreen+ v0.0 ATP2B2 Zornitza Stark gene: ATP2B2 was added
gene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset
Genomic newborn screening: BabyScreen+ v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
Genomic newborn screening: BabyScreen+ v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine
Genomic newborn screening: BabyScreen+ v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia
Genomic newborn screening: BabyScreen+ v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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)
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM# 614723
Genomic newborn screening: BabyScreen+ v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800
Genomic newborn screening: BabyScreen+ v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Apolipoprotein B deficiency
Genomic newborn screening: BabyScreen+ v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
Genomic newborn screening: BabyScreen+ v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038
Genomic newborn screening: BabyScreen+ v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK1 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic
Genomic newborn screening: BabyScreen+ v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882
Genomic newborn screening: BabyScreen+ v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500
Genomic newborn screening: BabyScreen+ v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Genomic newborn screening: BabyScreen+ v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 25966638; 28932688
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776
Genomic newborn screening: BabyScreen+ v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih
Genomic newborn screening: BabyScreen+ v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic
Genomic newborn screening: BabyScreen+ v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig
Genomic newborn screening: BabyScreen+ v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik
Genomic newborn screening: BabyScreen+ v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600
Genomic newborn screening: BabyScreen+ v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100
Genomic newborn screening: BabyScreen+ v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA
Genomic newborn screening: BabyScreen+ v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALB were set to Analbuminemia
Genomic newborn screening: BabyScreen+ v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked
Genomic newborn screening: BabyScreen+ v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome
Genomic newborn screening: BabyScreen+ v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Genomic newborn screening: BabyScreen+ v0.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120
Genomic newborn screening: BabyScreen+ v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
Genomic newborn screening: BabyScreen+ v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150
Genomic newborn screening: BabyScreen+ v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva
Genomic newborn screening: BabyScreen+ v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1
Genomic newborn screening: BabyScreen+ v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
Genomic newborn screening: BabyScreen+ v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750
Genomic newborn screening: BabyScreen+ v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475
Genomic newborn screening: BabyScreen+ v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ACAD8 Zornitza Stark gene: ACAD8 was added
gene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Genomic newborn screening: BabyScreen+ v0.0 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE
Genomic newborn screening: BabyScreen+ v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 11477083; 30344695
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500
Genomic newborn screening: BabyScreen+ v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3
Genomic newborn screening: BabyScreen+ v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ 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
Genomic newborn screening: BabyScreen+ v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome
Genomic newborn screening: BabyScreen+ v0.0 Zornitza Stark Added panel gNBS