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Genomic newborn screening: BabyScreen+ v0.0 RPS7 Zornitza Stark Source Expert Review Red was added to RPS7.
Source BabySeq Category C gene was added to RPS7.
Added phenotypes Diamond-Blackfan anemia for gene: RPS7
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPS10 Zornitza Stark Source Expert Review Red was added to RPS10.
Source BabySeq Category C gene was added to RPS10.
Added phenotypes Diamond-Blackfan anemia for gene: RPS10
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RPL35A Zornitza Stark Source Expert Review Red was added to RPL35A.
Source BabySeq Category C gene was added to RPL35A.
Added phenotypes Diamond-Blackfan anemia for gene: RPL35A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RHAG were set to Rh-deficiency syndrome
Genomic newborn screening: BabyScreen+ v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia
Genomic newborn screening: BabyScreen+ v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to Lissencephaly syndrome
Genomic newborn screening: BabyScreen+ v0.0 RANGRF Zornitza Stark gene: RANGRF was added
gene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANGRF were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
Genomic newborn screening: BabyScreen+ v0.0 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 PSEN2 Zornitza Stark gene: PSEN2 was added
gene: PSEN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN2 were set to Alzheimer disease, type 4
Genomic newborn screening: BabyScreen+ v0.0 PSEN1 Zornitza Stark gene: PSEN1 was added
gene: PSEN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3
Genomic newborn screening: BabyScreen+ v0.0 PSAT1 Zornitza Stark Source Expert Review Red was added to PSAT1.
Source BabySeq Category C gene was added to PSAT1.
Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Genomic newborn screening: BabyScreen+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome
Genomic newborn screening: BabyScreen+ v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I
Genomic newborn screening: BabyScreen+ v0.0 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital
Genomic newborn screening: BabyScreen+ v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B
Genomic newborn screening: BabyScreen+ v0.0 PREPL Zornitza Stark Source Expert Review Red was added to PREPL.
Source BabySeq Category C gene was added to PREPL.
Added phenotypes Hypotonia - cystinuria syndrome for gene: PREPL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ v0.0 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
Genomic newborn screening: BabyScreen+ v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Proopiomelanocortin deficiency
Genomic newborn screening: BabyScreen+ v0.0 PODXL Zornitza Stark gene: PODXL was added
gene: PODXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis
Genomic newborn screening: BabyScreen+ v0.0 PNPLA1 Zornitza Stark gene: PNPLA1 was added
gene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital
Genomic newborn screening: BabyScreen+ v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome
Genomic newborn screening: BabyScreen+ v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 PHOX2A Zornitza Stark gene: PHOX2A was added
gene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
Genomic newborn screening: BabyScreen+ v0.0 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Zellweger syndrome
Genomic newborn screening: BabyScreen+ v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder
Genomic newborn screening: BabyScreen+ v0.0 PDSS2 Zornitza Stark Source Expert Review Red was added to PDSS2.
Source BabySeq Category C gene was added to PDSS2.
Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PDSS1 Zornitza Stark Source Expert Review Red was added to PDSS1.
Source BabySeq Category C gene was added to PDSS1.
Added phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency
Genomic newborn screening: BabyScreen+ v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 PDE11A Zornitza Stark gene: PDE11A was added
gene: PDE11A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE11A were set to Adrenocortical hyperplasia
Genomic newborn screening: BabyScreen+ v0.0 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.0 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 OTUD4 Zornitza Stark gene: OTUD4 was added
gene: OTUD4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia
Genomic newborn screening: BabyScreen+ v0.0 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOG were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome
Genomic newborn screening: BabyScreen+ v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III
Genomic newborn screening: BabyScreen+ v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Genomic newborn screening: BabyScreen+ v0.0 NUP155 Zornitza Stark gene: NUP155 was added
gene: NUP155 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP155 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome
Genomic newborn screening: BabyScreen+ v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRXN1 was set to Unknown
Phenotypes for gene: NRXN1 were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NRG1 Zornitza Stark gene: NRG1 was added
gene: NRG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRG1 were set to Hirschsprung disease
Genomic newborn screening: BabyScreen+ v0.0 NR1H4 Zornitza Stark gene: NR1H4 was added
gene: NR1H4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NR1H4 were set to Cholestasis, infantile
Genomic newborn screening: BabyScreen+ v0.0 NPPA Zornitza Stark gene: NPPA was added
gene: NPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NPPA were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease
Genomic newborn screening: BabyScreen+ v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
Genomic newborn screening: BabyScreen+ v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NLRP7 were set to Hydatidiform mole
Genomic newborn screening: BabyScreen+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN4X was set to Unknown
Phenotypes for gene: NLGN4X were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NLGN3 was set to Unknown
Phenotypes for gene: NLGN3 were set to Autism
Genomic newborn screening: BabyScreen+ v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIN were set to Seckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita
Genomic newborn screening: BabyScreen+ v0.0 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised
Genomic newborn screening: BabyScreen+ v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip / palate
Genomic newborn screening: BabyScreen+ v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 NCF4 Zornitza Stark Source Expert Review Red was added to NCF4.
Source BabySeq Category C gene was added to NCF4.
Added phenotypes Chronic granulomatous disease for gene: NCF4
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 MYOZ2 Zornitza Stark gene: MYOZ2 was added
gene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYOT Zornitza Stark gene: MYOT was added
gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOT were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 MYOM1 Zornitza Stark gene: MYOM1 was added
gene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Genomic newborn screening: BabyScreen+ v0.0 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYO1E Zornitza Stark gene: MYO1E was added
gene: MYO1E was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis
Genomic newborn screening: BabyScreen+ v0.0 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MYLK2 Zornitza Stark gene: MYLK2 was added
gene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYLK2 was set to Unknown
Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect
Genomic newborn screening: BabyScreen+ v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
Genomic newborn screening: BabyScreen+ v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis
Genomic newborn screening: BabyScreen+ v0.0 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
Genomic newborn screening: BabyScreen+ v0.0 MSRB3 Zornitza Stark gene: MSRB3 was added
gene: MSRB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder
Genomic newborn screening: BabyScreen+ v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to Glucosidase 1 deficiency
Genomic newborn screening: BabyScreen+ v0.0 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome type 3
Genomic newborn screening: BabyScreen+ v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Lynch syndrome
Genomic newborn screening: BabyScreen+ v0.0 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
Genomic newborn screening: BabyScreen+ v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2
Genomic newborn screening: BabyScreen+ v0.0 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED13L were set to Transposition of great arteries
Genomic newborn screening: BabyScreen+ v0.0 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MCCC2 Zornitza Stark Source Expert Review Red was added to MCCC2.
Source BabySeq Category B gene was added to MCCC2.
Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 MATN4 Zornitza Stark gene: MATN4 was added
gene: MATN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MATN4 were set to Multiple anomalies
Genomic newborn screening: BabyScreen+ v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
Genomic newborn screening: BabyScreen+ v0.0 MAPK10 Zornitza Stark gene: MAPK10 was added
gene: MAPK10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 LYZ Zornitza Stark gene: LYZ was added
gene: LYZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LYZ were set to Amyloidosis, systemic
Genomic newborn screening: BabyScreen+ v0.0 LUM Zornitza Stark gene: LUM was added
gene: LUM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LUM were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
Genomic newborn screening: BabyScreen+ v0.0 LPP Zornitza Stark gene: LPP was added
gene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LPP were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome
Genomic newborn screening: BabyScreen+ v0.0 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
Genomic newborn screening: BabyScreen+ v0.0 LHB Zornitza Stark gene: LHB was added
gene: LHB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHB were set to Hypogonadism
Genomic newborn screening: BabyScreen+ v0.0 LGI1 Zornitza Stark gene: LGI1 was added
gene: LGI1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1
Genomic newborn screening: BabyScreen+ v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
Genomic newborn screening: BabyScreen+ v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome
Genomic newborn screening: BabyScreen+ v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
Genomic newborn screening: BabyScreen+ v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic
Genomic newborn screening: BabyScreen+ v0.0 KRT6B Zornitza Stark gene: KRT6B was added
gene: KRT6B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6B were set to Pachyonychia congenita
Genomic newborn screening: BabyScreen+ v0.0 KRT18 Zornitza Stark gene: KRT18 was added
gene: KRT18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic
Genomic newborn screening: BabyScreen+ v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures
Genomic newborn screening: BabyScreen+ v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2
Genomic newborn screening: BabyScreen+ v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
Genomic newborn screening: BabyScreen+ v0.0 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
Genomic newborn screening: BabyScreen+ v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal
Genomic newborn screening: BabyScreen+ v0.0 KCNQ2 Zornitza Stark Source Expert Review Red was added to KCNQ2.
Source BabySeq Category C gene was added to KCNQ2.
Added phenotypes Epilepsy, benign neonatal for gene: KCNQ2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNQ1OT1 was set to Unknown
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom
Genomic newborn screening: BabyScreen+ v0.0 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ5 were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
Genomic newborn screening: BabyScreen+ v0.0 KCNE5 Zornitza Stark gene: KCNE5 was added
gene: KCNE5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE5 were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 KCNE3 Zornitza Stark gene: KCNE3 was added
gene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
Genomic newborn screening: BabyScreen+ v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
Genomic newborn screening: BabyScreen+ v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis
Genomic newborn screening: BabyScreen+ v0.0 ISL1 Zornitza Stark gene: ISL1 was added
gene: ISL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISL1 were set to Diabetes, type 2
Genomic newborn screening: BabyScreen+ v0.0 ISCU Zornitza Stark gene: ISCU was added
gene: ISCU was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase
Genomic newborn screening: BabyScreen+ v0.0 IRS1 Zornitza Stark gene: IRS1 was added
gene: IRS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent
Genomic newborn screening: BabyScreen+ v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 IL10RB Zornitza Stark Source Expert Review Red was added to IL10RB.
Source BabySeq Category C gene was added to IL10RB.
Added phenotypes Inflammatory bowel disease for gene: IL10RB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency
Genomic newborn screening: BabyScreen+ v0.0 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Genomic newborn screening: BabyScreen+ v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2
Genomic newborn screening: BabyScreen+ v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome
Genomic newborn screening: BabyScreen+ v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6
Genomic newborn screening: BabyScreen+ v0.0 HPD Zornitza Stark Source Expert Review Red was added to HPD.
Source BabySeq Category C gene was added to HPD.
Mode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Tyrosinemia, type III for gene: HPD
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome
Genomic newborn screening: BabyScreen+ v0.0 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome
Genomic newborn screening: BabyScreen+ v0.0 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent
Genomic newborn screening: BabyScreen+ v0.0 HK1 Zornitza Stark Source Expert Review Red was added to HK1.
Source BabySeq Category C gene was added to HK1.
Mode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile
Genomic newborn screening: BabyScreen+ v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Haemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Hemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 HESX1 Zornitza Stark Source Expert Review Red was added to HESX1.
Source BabySeq Category C gene was added to HESX1.
Mode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pituitary hypoplasia for gene: HESX1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Autism spectrum disorder
Genomic newborn screening: BabyScreen+ v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCCS were set to Microphthalmia
Genomic newborn screening: BabyScreen+ v0.0 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Genomic newborn screening: BabyScreen+ v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Haemochromatosis
Genomic newborn screening: BabyScreen+ v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome
Genomic newborn screening: BabyScreen+ v0.0 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to Glycogen storage disease XV
Genomic newborn screening: BabyScreen+ v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus
Genomic newborn screening: BabyScreen+ v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy
Genomic newborn screening: BabyScreen+ v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects
Genomic newborn screening: BabyScreen+ v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency
Genomic newborn screening: BabyScreen+ v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Hyperekplexia
Genomic newborn screening: BabyScreen+ v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia
Genomic newborn screening: BabyScreen+ v0.0 GPC4 Zornitza Stark gene: GPC4 was added
gene: GPC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome
Genomic newborn screening: BabyScreen+ v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Congenital disorder of glycosylation
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
Mendeliome v1.333 GIF Zornitza Stark Marked gene: GIF as ready
Mendeliome v1.333 GIF Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is CBLIF.
Mendeliome v1.333 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Mendeliome v1.333 GIF Zornitza Stark Tag new gene name tag was added to gene: GIF.
Early-onset Parkinson disease v0.232 PTPA Zornitza Stark Marked gene: PTPA as ready
Early-onset Parkinson disease v0.232 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.232 PTPA Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence)
Early-onset Parkinson disease v0.232 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.231 PTPA Zornitza Stark gene: PTPA was added
gene: PTPA was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPA were set to 36073231
Phenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related; Parkisonism
Review for gene: PTPA was set to AMBER
Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.

There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.

Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.

------

Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.

These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.

Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.

Role of the gene:
As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders.

Variant studies:
Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.

Drosophila / animal models:
Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.
Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice.
Sources: Literature
Mendeliome v1.333 PTPA Zornitza Stark Marked gene: PTPA as ready
Mendeliome v1.333 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Mendeliome v1.333 PTPA Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence)
Mendeliome v1.333 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Mendeliome v1.332 PTPA Zornitza Stark gene: PTPA was added
gene: PTPA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPA were set to 36073231
Phenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related
Review for gene: PTPA was set to AMBER
Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.

There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.

Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.

------

Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.

These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.

Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.

Role of the gene:
As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders.

Variant studies:
Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.

Drosophila / animal models:
Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.
Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4941 PTPA Zornitza Stark Marked gene: PTPA as ready
Intellectual disability syndromic and non-syndromic v0.4941 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4941 PTPA Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4941 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4940 PTPA Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4940 PTPA Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Marked gene: BMPER as ready
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Skeletal Dysplasia_Fetal v0.90 BMPER Zornitza Stark Publications for gene: BMPER were set to
Intellectual disability syndromic and non-syndromic v0.4939 PTPA Konstantinos Varvagiannis changed review comment from: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.

There is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID.

Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.

------

Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.

These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.

Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.

Role of the gene:
As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders.

Variant studies:
Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.

Drosophila / animal models:
Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.
Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice.
Sources: Literature; to: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.

There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID.

Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.

------

Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.

These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.

Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.

Role of the gene:
As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders.

Variant studies:
Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.

Drosophila / animal models:
Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.
Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4939 PTPA Konstantinos Varvagiannis gene: PTPA was added
gene: PTPA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPA were set to 36073231
Phenotypes for gene: PTPA were set to Intellectual disability; Parkinsonism
Penetrance for gene: PTPA were set to Complete
Review for gene: PTPA was set to AMBER
Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below.

There is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID.

Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports.

------

Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants.

These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation.

Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies.

Role of the gene:
As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders.

Variant studies:
Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt.

Drosophila / animal models:
Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment.
Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice.
Sources: Literature
Mendeliome v1.331 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Nephrocalcinosis, MONDO:0001567, PKHD1-related
Mendeliome v1.330 PKHD1 Zornitza Stark Publications for gene: PKHD1 were set to
Mendeliome v1.329 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.328 PKHD1 Zornitza Stark edited their review of gene: PKHD1: Added comment: Notę heterozygous carriers reported to have liver cysts and nephrocalcinosis, gene-disease association considered MODERATE by ClinGen.; Changed publications: 28375157, 21945273; Changed phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200, Nephrocalcinosis, MONDO:0001567, PKHD1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.328 PPP2R5C Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability
Mendeliome v1.327 PPP2R5C Zornitza Stark Publications for gene: PPP2R5C were set to
Mendeliome v1.326 PPP2R5C Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence)
Mendeliome v1.326 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.119 PPP2R5C Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability
Macrocephaly_Megalencephaly v0.118 PPP2R5C Zornitza Stark Publications for gene: PPP2R5C were set to
Macrocephaly_Megalencephaly v0.117 PPP2R5C Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence)
Macrocephaly_Megalencephaly v0.117 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.116 PPP2R5C Zornitza Stark reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4939 PPP2R5C Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability
Intellectual disability syndromic and non-syndromic v0.4938 PPP2R5C Zornitza Stark Publications for gene: PPP2R5C were set to
Intellectual disability syndromic and non-syndromic v0.4937 PPP2R5C Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4937 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.89 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.88 MMP9 Zornitza Stark Classified gene: MMP9 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.88 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.87 MMP9 Zornitza Stark changed review comment from: Relatively mild skeletal dysplasia, unsure if it would be apparent antenatally.; to: Relatively mild skeletal dysplasia, limited reports. However, at least one case report of antenatal presentation, PMID 36035187.
Skeletal Dysplasia_Fetal v0.87 MMP9 Zornitza Stark edited their review of gene: MMP9: Changed rating: GREEN; Changed publications: 36035187
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Skeletal Dysplasia_Fetal v0.86 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Skeletal Dysplasia_Fetal v0.85 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.84 ARSE Zornitza Stark changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL.

Can present antenatally.
Skeletal Dysplasia_Fetal v0.84 ALPL Zornitza Stark changed review comment from: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).; to: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).

The severe infantile form is perinatal lethal.
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Marked gene: AGPS as ready
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Skeletal Dysplasia_Fetal v0.83 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.82 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400) to Metaphyseal anadysplasia 1 (MIM#602111)
Skeletal Dysplasia_Fetal v0.81 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.80 MMP13 Zornitza Stark Classified gene: MMP13 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.80 MMP13 Zornitza Stark Gene: mmp13 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.79 MMP13 Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.207 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Skeletal dysplasia v0.206 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Skeletal dysplasia v0.205 MPDU1 Zornitza Stark changed review comment from: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.; to: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.

Listed in the skeletal nosology paper as a condition resembling storage diseases, occasional reports of severe short stature.
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Classified gene: MNX1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.77 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Skeletal Dysplasia_Fetal. Sources: Expert Review
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MNX1 were set to 32571425; 33836786; 11528505
Phenotypes for gene: MNX1 were set to Currarino syndrome, MIM# 176450
Review for gene: MNX1 was set to GREEN
Added comment: Well established gene-disease association. Sacral agenesis and associated abnormalities can be evident on antenatal ultrasound.
Sources: Expert Review
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2 - MIM# 613073
Skeletal Dysplasia_Fetal v0.75 MMP9 Zornitza Stark Publications for gene: MMP9 were set to
Skeletal Dysplasia_Fetal v0.74 MMP9 Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.73 MMP9 Zornitza Stark Classified gene: MMP9 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.73 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4936 PPP2R5C Teresa Zhao reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Marked gene: MMP13 as ready
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400)
Mendeliome v1.325 PPP2R5C Teresa Zhao changed review comment from: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability

- PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth

- VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability; to: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability

- PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth

- VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability
Skeletal Dysplasia_Fetal v0.71 MMP13 Zornitza Stark Publications for gene: MMP13 were set to
Mendeliome v1.325 PPP2R5C Teresa Zhao reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal Dysplasia_Fetal v0.70 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Skeletal Dysplasia_Fetal v0.68 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Skeletal Dysplasia_Fetal v0.67 MESP2 Zornitza Stark Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4936 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Intellectual disability syndromic and non-syndromic v0.4936 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4936 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029
Intellectual disability syndromic and non-syndromic v0.4935 CACNA1C Zornitza Stark reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1664 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from Neurodevelopmental abnormalities and epilepsy, no OMIM# to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029
Genetic Epilepsy v0.1663 CACNA1C Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029
Polycystic liver disease v1.4 PKHD1 Elena Savva commented on gene: PKHD1
Polycystic liver disease v1.4 PKHD1 Elena Savva Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.325 MYH8 Ain Roesley reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: 15590965, 17041932, 15282353; Phenotypes: Carney complex variant MIM#60883; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.69 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Fetal anomalies v1.68 NODAL Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence)
Fetal anomalies v1.68 NODAL Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.67 NODAL Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.

The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.

A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.

Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987
Mendeliome v1.325 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Mendeliome v1.324 NODAL Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence)
Mendeliome v1.324 NODAL Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence).
Mendeliome v1.323 NODAL Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.

The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.

A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.

Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987
Holoprosencephaly and septo-optic dysplasia v1.6 NODAL Zornitza Stark commented on gene: NODAL: Predominantly associated with complex congenital heart disease (Amber), no evidence for association with major brain abnormalities.
Heterotaxy v1.23 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Heterotaxy v1.22 NODAL Zornitza Stark Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.21 NODAL Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence)
Heterotaxy v1.21 NODAL Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.20 NODAL Zornitza Stark reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.264 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Congenital Heart Defect v0.263 NODAL Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence)
Congenital Heart Defect v0.263 NODAL Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.262 NODAL Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.

The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.

A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.

Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987
Hyperinsulinism v1.0 Bryony Thompson promoted panel to version 1.0
Interstitial Lung Disease v1.0 Zornitza Stark promoted panel to version 1.0
Interstitial Lung Disease v0.351 Zornitza Stark Panel status changed from internal to public
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Marked gene: SLC16A1 as ready
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Gene: slc16a1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095
Hyperinsulinism v0.52 SLC16A1 Bryony Thompson Publications for gene: SLC16A1 were set to
Hyperinsulinism v0.51 SLC16A1 Bryony Thompson Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Marked gene: KCNJ11 as ready
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Gene: kcnj11 has been classified as Green List (High Evidence).
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Hyperinsulinism v0.49 KCNJ11 Bryony Thompson Publications for gene: KCNJ11 were set to
Hyperinsulinism v0.48 KCNJ11 Bryony Thompson Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.47 HNF4A Bryony Thompson Marked gene: HNF4A as ready
Hyperinsulinism v0.47 HNF4A Bryony Thompson Gene: hnf4a has been classified as Green List (High Evidence).
Hyperinsulinism v0.47 HNF4A Bryony Thompson Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850
Hyperinsulinism v0.46 HNF4A Bryony Thompson Publications for gene: HNF4A were set to
Hyperinsulinism v0.45 HNF4A Bryony Thompson Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.44 HNF1A Bryony Thompson Marked gene: HNF1A as ready
Hyperinsulinism v0.44 HNF1A Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence).
Hyperinsulinism v0.44 HNF1A Bryony Thompson Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496
Hyperinsulinism v0.43 HNF1A Bryony Thompson Publications for gene: HNF1A were set to
Hyperinsulinism v0.42 HNF1A Bryony Thompson Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.41 HADH Bryony Thompson Marked gene: HADH as ready
Hyperinsulinism v0.41 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Hyperinsulinism v0.41 HADH Bryony Thompson Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Hyperinsulinism v0.40 HADH Bryony Thompson Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Marked gene: GLUD1 as ready
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Gene: glud1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Hyperinsulinism v0.38 GLUD1 Bryony Thompson Publications for gene: GLUD1 were set to
Hyperinsulinism v0.37 GLUD1 Bryony Thompson Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Marked gene: ABCC8 as ready
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800
Hyperinsulinism v0.35 ABCC8 Bryony Thompson Publications for gene: ABCC8 were set to
Hyperinsulinism v0.34 ABCC8 Bryony Thompson Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.0 Zornitza Stark promoted panel to version 1.0
Prepair 1000+ v0.200 TAT Zornitza Stark Marked gene: TAT as ready
Prepair 1000+ v0.200 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Prepair 1000+ v0.200 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Prepair 1000+ v0.200 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Prepair 1000+ v0.199 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Prepair 1000+ v0.198 BTD Zornitza Stark Classified gene: BTD as Amber List (moderate evidence)
Prepair 1000+ v0.198 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.197 BTD Zornitza Stark changed review comment from: Variable severity, but treatable disorder.; to: Variable severity, but treatable disorder. Difficult to predict phenotype from genotype.
Prepair 1000+ v0.197 BTD Zornitza Stark edited their review of gene: BTD: Changed rating: AMBER
Prepair 1000+ v0.197 Zornitza Stark Panel status changed from internal to public
Prepair 1000+ v0.196 BTD Zornitza Stark Classified gene: BTD as Green List (high evidence)
Prepair 1000+ v0.196 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Prepair 1000+ v0.195 BTD Zornitza Stark Tag for review was removed from gene: BTD.
Prepair 1000+ v0.195 BTD Zornitza Stark changed review comment from: Variable severity, but treatable disorder. Consider genotype-phenotype correlation before final decision.; to: Variable severity, but treatable disorder.
Prepair 1000+ v0.195 BTD Zornitza Stark edited their review of gene: BTD: Changed rating: GREEN
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.194 PCDH19 Zornitza Stark Classified gene: PCDH19 as Green List (high evidence)
Prepair 1000+ v0.194 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 1000+ v0.193 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.193 RS1 Zornitza Stark Tag for review was removed from gene: RS1.
Prepair 1000+ v0.193 OAT Zornitza Stark Tag for review was removed from gene: OAT.
Prepair 1000+ v0.193 NR2E3 Zornitza Stark Tag for review was removed from gene: NR2E3.
Prepair 1000+ v0.193 TAT Zornitza Stark Tag for review was removed from gene: TAT.
Prepair 1000+ v0.193 TAT Zornitza Stark edited their review of gene: TAT: Changed rating: GREEN
Prepair 1000+ v0.193 GP1BA Zornitza Stark Marked gene: GP1BA as ready
Prepair 1000+ v0.193 GP1BA Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence).
Prepair 1000+ v0.193 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Prepair 1000+ v0.193 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.193 HBA1 Zornitza Stark Classified gene: HBA1 as Red List (low evidence)
Prepair 1000+ v0.193 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.192 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Prepair 1000+ v0.192 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.192 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.191 HBA2 Zornitza Stark Classified gene: HBA2 as Red List (low evidence)
Prepair 1000+ v0.191 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.190 GP1BA Zornitza Stark Classified gene: GP1BA as Red List (low evidence)
Prepair 1000+ v0.190 GP1BA Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence).
Prepair 1000+ v0.189 GP1BA Zornitza Stark Tag for review was removed from gene: GP1BA.
Prepair 1000+ v0.189 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Prepair 1000+ v0.189 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.189 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Prepair 1000+ v0.189 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.189 GP9 Zornitza Stark Marked gene: GP9 as ready
Prepair 1000+ v0.189 GP9 Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.189 GP9 Zornitza Stark Classified gene: GP9 as Red List (low evidence)
Prepair 1000+ v0.189 GP9 Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.188 GP9 Zornitza Stark Tag for review was removed from gene: GP9.
Prepair 1000+ v0.188 GP9 Zornitza Stark reviewed gene: GP9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type C (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Prepair 1000+ v0.188 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.188 F11 Zornitza Stark Marked gene: F11 as ready
Prepair 1000+ v0.188 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.188 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.187 GJB1 Zornitza Stark Classified gene: GJB1 as Green List (high evidence)
Prepair 1000+ v0.187 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.186 F11 Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) to Factor XI deficiency, autosomal recessive, (MIM#612416)
Prepair 1000+ v0.185 GJB1 Zornitza Stark Tag for review was removed from gene: GJB1.
Prepair 1000+ v0.185 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.185 F11 Zornitza Stark Classified gene: F11 as Red List (low evidence)
Prepair 1000+ v0.185 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.184 F11 Zornitza Stark Tag for review was removed from gene: F11.
Prepair 1000+ v0.184 F11 Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.184 Zornitza Stark removed gene:CYP19A1 from the panel
Prepair 1000+ v0.183 GRHPR Zornitza Stark Tag for review was removed from gene: GRHPR.
Prepair 1000+ v0.183 Zornitza Stark removed gene:CYP11B1 from the panel
Prepair 1000+ v0.182 IGHM Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence)
Prepair 1000+ v0.182 IGHM Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.181 IGHM Zornitza Stark changed review comment from: Workaround in place to detect variants in this gene.; to: Workaround possible to detect variants in this gene. However, residual risk of false negative results.
Prepair 1000+ v0.181 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER
Prepair 1000+ v0.181 F9 Zornitza Stark Marked gene: F9 as ready
Prepair 1000+ v0.181 F9 Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.181 F9 Zornitza Stark Classified gene: F9 as Red List (low evidence)
Prepair 1000+ v0.181 F9 Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.180 F9 Zornitza Stark Tag for review was removed from gene: F9.
Prepair 1000+ v0.180 IGHM Zornitza Stark Tag for review was removed from gene: IGHM.
Prepair 1000+ v0.180 F9 Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.180 F5 Zornitza Stark Marked gene: F5 as ready
Prepair 1000+ v0.180 F5 Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.180 F5 Zornitza Stark Classified gene: F5 as Amber List (moderate evidence)
Prepair 1000+ v0.180 F5 Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.179 F5 Zornitza Stark Tag for review was removed from gene: F5.
Prepair 1000+ v0.179 F5 Zornitza Stark reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.179 F2 Zornitza Stark Marked gene: F2 as ready
Prepair 1000+ v0.179 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.179 F2 Zornitza Stark Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679)
Prepair 1000+ v0.178 F2 Zornitza Stark Tag for review was removed from gene: F2.
Prepair 1000+ v0.178 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.178 RPGR Zornitza Stark Marked gene: RPGR as ready
Prepair 1000+ v0.178 RPGR Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.178 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from Macular degeneration, X-linked atrophic, 300834 (3) to Retinitis pigmentosa 3 (MIM#300029)
Prepair 1000+ v0.177 RPGR Zornitza Stark Publications for gene: RPGR were set to
Prepair 1000+ v0.176 RPGR Zornitza Stark Classified gene: RPGR as Amber List (moderate evidence)
Prepair 1000+ v0.176 RPGR Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.175 RPGR Zornitza Stark Tag for review was removed from gene: RPGR.
Prepair 1000+ v0.175 HYDIN Zornitza Stark Marked gene: HYDIN as ready
Prepair 1000+ v0.175 HYDIN Zornitza Stark Gene: hydin has been classified as Green List (High Evidence).
Prepair 1000+ v0.175 GBA Zornitza Stark Marked gene: GBA as ready
Prepair 1000+ v0.175 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.175 GBA Zornitza Stark Publications for gene: GBA were set to
Prepair 1000+ v0.174 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Prepair 1000+ v0.174 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.173 GBA Zornitza Stark Tag for review was removed from gene: GBA.
Prepair 1000+ v0.173 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Prepair 1000+ v0.173 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.173 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) to Chronic granulomatous disease 1, autosomal recessive (MIM#233700)
Prepair 1000+ v0.172 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Prepair 1000+ v0.171 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Prepair 1000+ v0.171 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.170 NCF1 Zornitza Stark Tag for review was removed from gene: NCF1.
Prepair 1000+ v0.170 HYDIN Zornitza Stark Publications for gene: HYDIN were set to
Prepair 1000+ v0.169 HYDIN Zornitza Stark Tag for review was removed from gene: HYDIN.
Prepair 1000+ v0.169 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Prepair 1000+ v0.169 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.169 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, 615516 (3) to Intellectual developmental disorder, autosomal recessive 38 (MIM#615516)
Prepair 1000+ v0.168 HERC2 Zornitza Stark Tag for review was removed from gene: HERC2.
Prepair 1000+ v0.168 RPGR Crystle Lee changed review comment from: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209; to: Gene is mostly well covered however is missing critical region (ORF15) - ChrX:38286208-38286209
Prepair 1000+ v0.168 RPGR Crystle Lee commented on gene: RPGR: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209
Prepair 1000+ v0.168 GBA Crystle Lee commented on gene: GBA: Most common pathogenic variant Asn409Ser detectable. Technically challenging to accurately detect the 2nd most common pathogenic variant, Leu483Pro
Prepair 1000+ v0.168 NCF1 Crystle Lee commented on gene: NCF1: 5 out of 11 exons in the gene does not map accurately (exon 1, 5, 8, 9, 11)
Prepair 1000+ v0.168 HYDIN Crystle Lee edited their review of gene: HYDIN: Added comment: Mapping issues reviewed: Gene is mostly well covered. Insufficient evidence to exclude on technical ground.; Changed rating: GREEN
Prepair 1000+ v0.168 HERC2 Crystle Lee edited their review of gene: HERC2: Added comment: Mapping issues reviewed: Majority of exons in this gene are well covered and there is no evidence of any recurrent variants. Insufficient mapping issues to exclude gene.

Note: most SNVs reported as VUS. Lots of multigenic CNVs reported.; Changed rating: GREEN
Aortopathy_Connective Tissue Disorders v1.71 JAG1 Bryony Thompson Marked gene: JAG1 as ready
Aortopathy_Connective Tissue Disorders v1.71 JAG1 Bryony Thompson Gene: jag1 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.71 JAG1 Bryony Thompson Classified gene: JAG1 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v1.71 JAG1 Bryony Thompson Gene: jag1 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.70 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 35819173; 30071989; 14993126; 18570795
Phenotypes for gene: JAG1 were set to thoracic aortic aneurysm MONDO:0005396
Review for gene: JAG1 was set to AMBER
Added comment: Thoracic aortic aneurysm appears to be a rare feature of Alagille syndrome, but has been reported as a presenting feature in at least 2 families
PMID: 35819173 - two families segregating JAG1 variants that present with isolated aneurysmal disease lacking other Alagille syndrome (AGS) clinical characteristics (such as the hepatic abnormalities, posterior embryotoxon, and cardiac structural changes). Histological evaluation of aortic tissue from one of the TAA cases revealed elastin degradation and abnormal collagen deposition.
PMID: 30071989 - JAG1 assessed as no (clinical) evidence for HTAAD by the ClinGen Heritable Thoracic Aortic Aneurysm and Dissection GCEP in 2018. Currently under review
PMID: 14993126 - three AGS patients with aortic aneurysms and 2 with aortic coarctations identified in a retrospective chart review of 268 AGS individuals autopsy finding in three patients who died of sudden death
PMID: 18570795 - 17 yo asymptomatic AGS case with dilatation of the ascending aorta from the root identified
Sources: Literature
Mendeliome v1.323 JAG1 Bryony Thompson reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35819173, 30071989, 14993126, 18570795; Phenotypes: thoracic aortic aneurysm MONDO:0005396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.323 OOEP Bryony Thompson Phenotypes for gene: OOEP were changed from Multi locus imprinting disturbance in offspring to Multi locus imprinting disturbance in offspring; female infertility due to oocyte meiotic arrest MONDO:0044626
Mendeliome v1.322 OOEP Bryony Thompson Publications for gene: OOEP were set to 29574422
Mendeliome v1.321 OOEP Bryony Thompson Classified gene: OOEP as Amber List (moderate evidence)
Mendeliome v1.321 OOEP Bryony Thompson Gene: ooep has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4935 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Mendeliome v1.320 OOEP Bryony Thompson reviewed gene: OOEP: Rating: AMBER; Mode of pathogenicity: None; Publications: 35946397, 18804437; Phenotypes: female infertility due to oocyte meiotic arrest MONDO:0044626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4934 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus
Genetic Epilepsy v0.1663 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Genetic Epilepsy v0.1662 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus
Mendeliome v1.320 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 to Developmental and epileptic encephalopathy 106, MIM# 620028; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Mendeliome v1.319 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Intellectual disability syndromic and non-syndromic v0.4934 TRAPPC10 Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027
Intellectual disability syndromic and non-syndromic v0.4933 TRAPPC10 Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1662 TRAPPC10 Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027
Genetic Epilepsy v0.1661 TRAPPC10 Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.152 TRAPPC10 Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027
Microcephaly v1.151 TRAPPC10 Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.319 TRAPPC10 Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027
Mendeliome v1.318 TRAPPC10 Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1661 CAPRIN1 Zornitza Stark Publications for gene: CAPRIN1 were set to 35979925
Intellectual disability syndromic and non-syndromic v0.4933 CAPRIN1 Zornitza Stark Publications for gene: CAPRIN1 were set to 35979925
Mendeliome v1.318 UBAP2L Zornitza Stark changed review comment from: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1).
Sources: Literature; to: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in 11 individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1).
Sources: Literature
Mendeliome v1.318 UBAP2L Zornitza Stark Marked gene: UBAP2L as ready
Mendeliome v1.318 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Mendeliome v1.318 UBAP2L Zornitza Stark Classified gene: UBAP2L as Green List (high evidence)
Mendeliome v1.318 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Mendeliome v1.317 UBAP2L Zornitza Stark gene: UBAP2L was added
gene: UBAP2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBAP2L were set to 35977029
Phenotypes for gene: UBAP2L were set to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related
Review for gene: UBAP2L was set to GREEN
Added comment: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1).
Sources: Literature
Genetic Epilepsy v0.1660 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1660 UBAP2L Zornitza Stark Marked gene: UBAP2L as ready
Genetic Epilepsy v0.1660 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1660 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1659 UBAP2L Zornitza Stark Classified gene: UBAP2L as Green List (high evidence)
Genetic Epilepsy v0.1659 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4932 UBAP2L Zornitza Stark Marked gene: UBAP2L as ready
Intellectual disability syndromic and non-syndromic v0.4932 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4932 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1658 UBAP2L Zornitza Stark reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4931 UBAP2L Zornitza Stark Mode of inheritance for gene: UBAP2L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4930 UBAP2L Zornitza Stark Classified gene: UBAP2L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4930 UBAP2L Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4929 UBAP2L Zornitza Stark reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Marked gene: SMARCB1 as ready
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.205 SMARCB1 Bryony Thompson Phenotypes for gene: SMARCB1 were changed from Coffin Siris syndrome to Coffin-Siris syndrome 3, MIM# 614608
Skeletal dysplasia v0.204 SMARCB1 Bryony Thompson Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.203 SMARCB1 Bryony Thompson Publications for gene: SMARCB1 were set to
Skeletal dysplasia v0.202 SMARCB1 Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence)
Skeletal dysplasia v0.202 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Marked gene: SOX11 as ready
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.201 SOX11 Bryony Thompson Mode of inheritance for gene: SOX11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.200 SOX11 Bryony Thompson Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome MONDO:0015452
Skeletal dysplasia v0.199 SOX11 Bryony Thompson Classified gene: SOX11 as Green List (high evidence)
Skeletal dysplasia v0.199 SOX11 Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.198 SOX11 Bryony Thompson reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26543203; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.198 SOX11 Bryony Thompson Publications for gene: SOX11 were set to
Skeletal dysplasia v0.197 USP9X Bryony Thompson Marked gene: USP9X as ready
Skeletal dysplasia v0.197 USP9X Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence).
Skeletal dysplasia v0.197 USP9X Bryony Thompson Phenotypes for gene: USP9X were changed from New syndrom with skd to intellectual disability, X-linked 99 MONDO:0010487
Skeletal dysplasia v0.196 USP9X Bryony Thompson Publications for gene: USP9X were set to
Skeletal dysplasia v0.195 USP9X Bryony Thompson Mode of inheritance for gene: USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v0.194 USP9X Bryony Thompson Classified gene: USP9X as Green List (high evidence)
Skeletal dysplasia v0.194 USP9X Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence).
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Marked gene: SMARCE1 as ready
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.193 SMARCE1 Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938
Skeletal dysplasia v0.192 SMARCE1 Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 5, MIM# 616938
Skeletal dysplasia v0.192 SMARCE1 Bryony Thompson Mode of inheritance for gene: SMARCE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.191 SMARCE1 Bryony Thompson Publications for gene: SMARCE1 were set to
Skeletal dysplasia v0.190 SMARCE1 Bryony Thompson Classified gene: SMARCE1 as Green List (high evidence)
Skeletal dysplasia v0.190 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.189 ZNF423 Bryony Thompson Deleted their review
Fetal anomalies v1.67 ALDH1A2 Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042 to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025
Fetal anomalies v1.66 ALDH1A2 Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.316 ALDH1A2 Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025
Mendeliome v1.315 ALDH1A2 Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.262 ALDH1A2 Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025
Congenital Heart Defect v0.261 ALDH1A2 Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.66 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from neurodevelopmental disorder, CHKA-related MONDO#0700092 to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023
Fetal anomalies v1.65 CHKA Zornitza Stark reviewed gene: CHKA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4929 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023
Intellectual disability syndromic and non-syndromic v0.4928 CHKA Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1658 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023
Genetic Epilepsy v0.1657 CHKA Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.151 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023
Microcephaly v1.150 CHKA Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.315 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023
Mendeliome v1.314 CHKA Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1657 CAPRIN1 Konstantinos Varvagiannis reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35979925, 35977029, 28135719, 31398340, https://doi.org/10.1101/2021.12.20.21267194; Phenotypes: Global developmental delay, Delayed speech and language development, Intellectual disability, Autistic behavior, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.4928 CAPRIN1 Konstantinos Varvagiannis reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35979925, 35977029, 28135719, 31398340, https://doi.org/10.1101/2021.12.20.21267194; Phenotypes: Global developmental delay, Delayed speech and language development, Intellectual disability, Autistic behavior, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1657 UBAP2L Konstantinos Varvagiannis gene: UBAP2L was added
gene: UBAP2L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP2L were set to 35977029
Phenotypes for gene: UBAP2L were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Penetrance for gene: UBAP2L were set to unknown
Review for gene: UBAP2L was set to AMBER
Added comment: Seizures have been reported in several individuals although a formal diagnosis of epilepsy was retained in ~30% in a small cohort discussed below. Consider inclusion with amber rating.

-----

Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1).

Details provided below.

Not associated with any phenotype in OMIM, G2P or SysNDD.

--------

Jia et al (2022 - PMID: 35977029) describe 12 affected individuals with heterozygous de novo pLoF variants in UBAP2L.

Phenotype: Features included hypotonia, speech (11/11) and motor delay (8/12), ID (8/10 with formal evaluation), variable behavioral concerns (ADHD 5/11, ASD in 4/10, etc). Seizures were reported in 7/12 with 3/10 having a formal diagnosis of epilepsy. Few had microcephaly (3/10). Facial dysmorphisms were common (9/9) and included abnormal palpebral fissures, deep prominent concha, high broad forehead, hypertelorism, thin upper lip and mild synophrys (each in 4 or less individuals). Short stature or skeletal alterations were described in some (4/10 each).

Role of the gene: UBAP2L encodes an essential regulator of stress granule assembly. Stress granules are membraneless cytoplasmic compartments in eukaryotic cells, induced upon a variety of stressors and playing a role in regulation of gene expression.

Variants identified : 9 nonsense/frameshift UBAP2L variants and 3 splicing ones were reported, in all cases as de novo events, upon trio/quad exome sequencing. All were absent from gnomAD. There were no other causative variants.

Variant effect/studies (NM_014847.4 / NP_055662.3) :
- Minigene assays revealed that the 3 splice variants all resulted in out-of-frame exon skipping.
- In patient fibroblasts one of these splice variants was demonstrated to result to reduced protein levels.
- 8 of the 9 nonsense/frameshift variants were predicted to result to NMD.
- 1 nonsense variant (c.88C>T/p.Q30*) was shown to result to decreased protein expression in patient fibroblasts, with detection of the protein using an antibody for the C terminus but not the N terminus. Protein N-terminal sequencing confirmed that the protein lacked the N terminus, with utilization of an alternative start site (11 codons downstream).
- Generation of HeLa UBAP2L KO cell lines resulted in significant reduction of SG numbers which was also the case for 4 variants studied, under stress conditions.
- The protein has a DUF domain (aa 495-526) known to mediate interaction of UBAP2L with G3BP1 (a stress granule marker) with deletions of this domain leading to shuttling of UBAP2L from the cytoplasm to the nucleus. Truncating variants upstream of the DUF domain were shown to result in nuclear localization.

Mouse model :
- The authors generated Ubap2l KO model with hmz deletion of Ubap2l resulting in a lethal phenotype (2.6% survived) and htz deletion leading to behavioral issues (low preference for social novelty, anxious-like behaviors) and cognitive impairment.
- Ubap2l haploinsufficiency resulted in abnormal cortical development and lamination with reduction of neural progenitor proliferation.
- Ubap2l deficiency was shown to impair SG assembly during cortical development both under physiological stress conditions or upon utilization of an oxidative stress inducer.

Additional evidence of UBAP2L and SG overall in pathogenesis of NDDs:
- Based on DNMs from 40,853 individuals with NDDs from 26 studies (9,228 with ASD, 31,625 with DD/ID) the authors demonstrate significant excess of DNM in 31 genes encoding SG components, regulators or both, the latter being the case for UBAP2L and 2 further genes (G3BP1 and G3BP2 - both with crucial roles in SG assembly).
- Excess dn splice-site (N=3) and missense (N=5) variants in G3BP1 were observed in the above cohort [c.95+1G>A, c.353+1G>T, c.539+1G>A / p.S208C, R320C, V366M].
- Excess dn missense (N=7) variants in G3BP2 were observed in the above cohort [p.R13W, D151N, E158K, L209P, E399D, K408E, R438C].
- Generation of G3BP1 or G3BP2 KO HeLa cell lines and immunofluorescence upon use of oxidative stress inducer revealed significant reduction of stress granules.
- Generation of HeLa cell lines for 5 G3BP1 mutants (R78C*, R132I*, S208C*, R320C*, V366M) and 7 G3BP2 mutants (p.R13W*, D151N*, E158K, L209P*, E399D, K408E, R438C) revealed that several (those in asterisk) resulted in significantly fewer SG formation under oxidative stress compared to WT while the subcellular distribution of the proteins under stress was identical to WT.
- Among the identified genes for SG enriched for DNMs, CAPRIN1 was implicated in previous publications as a NDD risk gene with 3 dn missense SNVs reported (p.I373K, p.Q446H, p.L484P). CAPRIN1 binding to G3BP1/2 has been shown to promote SG formation. Significant reduction of SG was observed in CAPRIN1 KO HeLa lines. p.I373K abolished interaction with G3BP1/2 and disrupted SG formation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4928 UBAP2L Konstantinos Varvagiannis gene: UBAP2L was added
gene: UBAP2L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP2L were set to 35977029
Phenotypes for gene: UBAP2L were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Penetrance for gene: UBAP2L were set to unknown
Review for gene: UBAP2L was set to GREEN
Added comment: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1).

Details provided below.

Not associated with any phenotype in OMIM, G2P or SysNDD.

--------

Jia et al (2022 - PMID: 35977029) describe 12 affected individuals with heterozygous de novo pLoF variants in UBAP2L.

Phenotype: Features included hypotonia, speech (11/11) and motor delay (8/12), ID (8/10 with formal evaluation), variable behavioral concerns (ADHD 5/11, ASD in 4/10, etc). Seizures were reported in 7/12 with 3/10 having a formal diagnosis of epilepsy. Few had microcephaly (3/10). Facial dysmorphisms were common (9/9) and included abnormal palpebral fissures, deep prominent concha, high broad forehead, hypertelorism, thin upper lip and mild synophrys (each in 4 or less individuals). Short stature or skeletal alterations were described in some (4/10 each).

Role of the gene: UBAP2L encodes an essential regulator of stress granule assembly. Stress granules are membraneless cytoplasmic compartments in eukaryotic cells, induced upon a variety of stressors and playing a role in regulation of gene expression.

Variants identified : 9 nonsense/frameshift UBAP2L variants and 3 splicing ones were reported, in all cases as de novo events, upon trio/quad exome sequencing. All were absent from gnomAD. There were no other causative variants.

Variant effect/studies (NM_014847.4 / NP_055662.3) :
- Minigene assays revealed that the 3 splice variants all resulted in out-of-frame exon skipping.
- In patient fibroblasts one of these splice variants was demonstrated to result to reduced protein levels.
- 8 of the 9 nonsense/frameshift variants were predicted to result to NMD.
- 1 nonsense variant (c.88C>T/p.Q30*) was shown to result to decreased protein expression in patient fibroblasts, with detection of the protein using an antibody for the C terminus but not the N terminus. Protein N-terminal sequencing confirmed that the protein lacked the N terminus, with utilization of an alternative start site (11 codons downstream).
- Generation of HeLa UBAP2L KO cell lines resulted in significant reduction of SG numbers which was also the case for 4 variants studied, under stress conditions.
- The protein has a DUF domain (aa 495-526) known to mediate interaction of UBAP2L with G3BP1 (a stress granule marker) with deletions of this domain leading to shuttling of UBAP2L from the cytoplasm to the nucleus. Truncating variants upstream of the DUF domain were shown to result in nuclear localization.

Mouse model :
- The authors generated Ubap2l KO model with hmz deletion of Ubap2l resulting in a lethal phenotype (2.6% survived) and htz deletion leading to behavioral issues (low preference for social novelty, anxious-like behaviors) and cognitive impairment.
- Ubap2l haploinsufficiency resulted in abnormal cortical development and lamination with reduction of neural progenitor proliferation.
- Ubap2l deficiency was shown to impair SG assembly during cortical development both under physiological stress conditions or upon utilization of an oxidative stress inducer.

Additional evidence of UBAP2L and SG overall in pathogenesis of NDDs:
- Based on DNMs from 40,853 individuals with NDDs from 26 studies (9,228 with ASD, 31,625 with DD/ID) the authors demonstrate significant excess of DNM in 31 genes encoding SG components, regulators or both, the latter being the case for UBAP2L and 2 further genes (G3BP1 and G3BP2 - both with crucial roles in SG assembly).
- Excess dn splice-site (N=3) and missense (N=5) variants in G3BP1 were observed in the above cohort [c.95+1G>A, c.353+1G>T, c.539+1G>A / p.S208C, R320C, V366M].
- Excess dn missense (N=7) variants in G3BP2 were observed in the above cohort [p.R13W, D151N, E158K, L209P, E399D, K408E, R438C].
- Generation of G3BP1 or G3BP2 KO HeLa cell lines and immunofluorescence upon use of oxidative stress inducer revealed significant reduction of stress granules.
- Generation of HeLa cell lines for 5 G3BP1 mutants (R78C*, R132I*, S208C*, R320C*, V366M) and 7 G3BP2 mutants (p.R13W*, D151N*, E158K, L209P*, E399D, K408E, R438C) revealed that several (those in asterisk) resulted in significantly fewer SG formation under oxidative stress compared to WT while the subcellular distribution of the proteins under stress was identical to WT.
- Among the identified genes for SG enriched for DNMs, CAPRIN1 was implicated in previous publications as a NDD risk gene with 3 dn missense SNVs reported (p.I373K, p.Q446H, p.L484P). CAPRIN1 binding to G3BP1/2 has been shown to promote SG formation. Significant reduction of SG was observed in CAPRIN1 KO HeLa lines. p.I373K abolished interaction with G3BP1/2 and disrupted SG formation.
Sources: Literature
Skeletal dysplasia v0.189 ARSK Bryony Thompson Classified gene: ARSK as Green List (high evidence)
Skeletal dysplasia v0.189 ARSK Bryony Thompson Gene: arsk has been classified as Green List (High Evidence).
Skeletal dysplasia v0.188 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Marked gene: PAM16 as ready
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Classified gene: PAM16 as Green List (high evidence)
Skeletal dysplasia v0.187 PAM16 Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Marked gene: MIR17HG as ready
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence).
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Classified gene: MIR17HG as Green List (high evidence)
Skeletal dysplasia v0.186 MIR17HG Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence).
Skeletal dysplasia v0.185 WDPCP Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 TTC8 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence)
Genetic Epilepsy v0.1657 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Mendeliome v1.314 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Mendeliome v1.314 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Mendeliome v1.314 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence)
Mendeliome v1.314 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4928 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Intellectual disability syndromic and non-syndromic v0.4928 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4928 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.4928 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.185 BBS9 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS7 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS5 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS4 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS2 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 BBS10 Bryony Thompson Deleted their review
Skeletal dysplasia v0.185 ARL6 Bryony Thompson Deleted their review
Aminoacidopathy v1.0 Bryony Thompson promoted panel to version 1.0
Miscellaneous Metabolic Disorders v1.23 Bryony Thompson removed gene:BCKDK from the panel
Miscellaneous Metabolic Disorders v1.22 Bryony Thompson removed gene:BCAT2 from the panel
Miscellaneous Metabolic Disorders v1.21 Bryony Thompson removed gene:ACAD8 from the panel
Metabolic Disorders Superpanel v5.412 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Fatty Acid Oxidation Defects; Lysosomal Storage Disorder; Neurotransmitter Defects; Renal Hypertension and Disorders of Aldosterone Metabolism; Glycogen Storage Diseases; Mitochondrial disease; Rhabdomyolysis; Nephrolithiasis and Nephrocalcinosis; Disorders of branched chain amino acid metabolism; Peroxisomal Disorders; Renal abnormalities of calcium and phosphate metabolism; Dyslipidaemia; Renal Abnormalities of Magnesium Metabolism; Iron metabolism disorders; Metabolic renal disease; Hypomagnesaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia
Aminoacidopathy v0.49 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Aminoacidopathy v0.48 TAZ Bryony Thompson Marked gene: TAZ as ready
Aminoacidopathy v0.48 TAZ Bryony Thompson Gene: taz has been classified as Green List (High Evidence).
Aminoacidopathy v0.48 TAZ Bryony Thompson Classified gene: TAZ as Green List (high evidence)
Aminoacidopathy v0.48 TAZ Bryony Thompson Gene: taz has been classified as Green List (High Evidence).
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Marked gene: SERAC1 as ready
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Publications for gene: SERAC1 were set to 29152456
Aminoacidopathy v0.46 SERAC1 Bryony Thompson Classified gene: SERAC1 as Green List (high evidence)
Aminoacidopathy v0.46 SERAC1 Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.45 PCCB Bryony Thompson Marked gene: PCCB as ready
Aminoacidopathy v0.45 PCCB Bryony Thompson Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v0.45 PCCB Bryony Thompson Publications for gene: PCCB were set to 29152456
Aminoacidopathy v0.44 PCCB Bryony Thompson Classified gene: PCCB as Green List (high evidence)
Aminoacidopathy v0.44 PCCB Bryony Thompson Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v0.43 PCCA Bryony Thompson Classified gene: PCCA as Green List (high evidence)
Aminoacidopathy v0.43 PCCA Bryony Thompson Gene: pcca has been classified as Green List (High Evidence).
Aminoacidopathy v0.42 PCCA Bryony Thompson Marked gene: PCCA as ready
Aminoacidopathy v0.42 PCCA Bryony Thompson Gene: pcca has been classified as Red List (Low Evidence).
Aminoacidopathy v0.42 PCCA Bryony Thompson Publications for gene: PCCA were set to 29152456
Aminoacidopathy v0.41 OPA3 Bryony Thompson Classified gene: OPA3 as Green List (high evidence)
Aminoacidopathy v0.41 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Aminoacidopathy v0.40 MUT Bryony Thompson Marked gene: MUT as ready
Aminoacidopathy v0.40 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Aminoacidopathy v0.40 MUT Bryony Thompson Publications for gene: MUT were set to 29152456
Aminoacidopathy v0.39 MUT Bryony Thompson Classified gene: MUT as Green List (high evidence)
Aminoacidopathy v0.39 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Aminoacidopathy v0.38 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Aminoacidopathy v0.38 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Aminoacidopathy v0.38 MMADHC Bryony Thompson Publications for gene: MMADHC were set to 29152456
Aminoacidopathy v0.37 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Aminoacidopathy v0.37 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Aminoacidopathy v0.36 MMAB Bryony Thompson Marked gene: MMAB as ready
Aminoacidopathy v0.36 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Aminoacidopathy v0.36 MMAB Bryony Thompson Classified gene: MMAB as Green List (high evidence)
Aminoacidopathy v0.36 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Aminoacidopathy v0.35 MMAA Bryony Thompson Marked gene: MMAA as ready
Aminoacidopathy v0.35 MMAA Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence).
Aminoacidopathy v0.35 MMAA Bryony Thompson Classified gene: MMAA as Green List (high evidence)
Aminoacidopathy v0.35 MMAA Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence).
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Marked gene: MCCC2 as ready
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Publications for gene: MCCC2 were set to 29152456
Aminoacidopathy v0.33 MCCC2 Bryony Thompson Classified gene: MCCC2 as Green List (high evidence)
Aminoacidopathy v0.33 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Marked gene: MCCC1 as ready
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 29152456
Aminoacidopathy v0.31 MCCC1 Bryony Thompson Classified gene: MCCC1 as Green List (high evidence)
Aminoacidopathy v0.31 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.30 IVD Bryony Thompson Marked gene: IVD as ready
Aminoacidopathy v0.30 IVD Bryony Thompson Gene: ivd has been classified as Green List (High Evidence).
Aminoacidopathy v0.30 IVD Bryony Thompson Publications for gene: IVD were set to 29152456
Aminoacidopathy v0.29 IVD Bryony Thompson Classified gene: IVD as Green List (high evidence)
Aminoacidopathy v0.29 IVD Bryony Thompson Gene: ivd has been classified as Green List (High Evidence).
Aminoacidopathy v0.28 HMGCL Bryony Thompson Marked gene: HMGCL as ready
Aminoacidopathy v0.28 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Aminoacidopathy v0.28 HMGCL Bryony Thompson Publications for gene: HMGCL were set to 29152456
Aminoacidopathy v0.27 HMGCL Bryony Thompson Classified gene: HMGCL as Green List (high evidence)
Aminoacidopathy v0.27 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Aminoacidopathy v0.26 HIBCH Bryony Thompson Marked gene: HIBCH as ready
Aminoacidopathy v0.26 HIBCH Bryony Thompson Gene: hibch has been classified as Green List (High Evidence).
Aminoacidopathy v0.26 HIBCH Bryony Thompson Publications for gene: HIBCH were set to 29152456
Aminoacidopathy v0.25 HIBCH Bryony Thompson Classified gene: HIBCH as Green List (high evidence)
Aminoacidopathy v0.25 HIBCH Bryony Thompson Gene: hibch has been classified as Green List (High Evidence).
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Marked gene: DNAJC19 as ready
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence).
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Publications for gene: DNAJC19 were set to 29152456
Aminoacidopathy v0.23 DNAJC19 Bryony Thompson Classified gene: DNAJC19 as Green List (high evidence)
Aminoacidopathy v0.23 DNAJC19 Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence).
Aminoacidopathy v0.22 CLPB Bryony Thompson Marked gene: CLPB as ready
Aminoacidopathy v0.22 CLPB Bryony Thompson Gene: clpb has been classified as Green List (High Evidence).
Aminoacidopathy v0.22 CLPB Bryony Thompson Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Aminoacidopathy v0.21 CLPB Bryony Thompson Publications for gene: CLPB were set to 29152456
Aminoacidopathy v0.20 CLPB Bryony Thompson Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aminoacidopathy v0.19 CLPB Bryony Thompson Classified gene: CLPB as Green List (high evidence)
Aminoacidopathy v0.19 CLPB Bryony Thompson Gene: clpb has been classified as Green List (High Evidence).
Aminoacidopathy v0.18 AUH Bryony Thompson Marked gene: AUH as ready
Aminoacidopathy v0.18 AUH Bryony Thompson Gene: auh has been classified as Green List (High Evidence).
Aminoacidopathy v0.18 AUH Bryony Thompson Publications for gene: AUH were set to 29152456
Aminoacidopathy v0.17 AUH Bryony Thompson Classified gene: AUH as Green List (high evidence)
Aminoacidopathy v0.17 AUH Bryony Thompson Gene: auh has been classified as Green List (High Evidence).
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Marked gene: ALDH6A1 as ready
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Publications for gene: ALDH6A1 were set to 29152456
Aminoacidopathy v0.15 ALDH6A1 Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence)
Aminoacidopathy v0.15 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Marked gene: ACAT1 as ready
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.13 ACADSB Bryony Thompson Marked gene: ACADSB as ready
Aminoacidopathy v0.13 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Aminoacidopathy v0.13 ACADSB Bryony Thompson Publications for gene: ACADSB were set to 29152456
Aminoacidopathy v0.12 ACADSB Bryony Thompson Classified gene: ACADSB as Green List (high evidence)
Aminoacidopathy v0.12 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Marked gene: ACAD8 as ready
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Publications for gene: ACAD8 were set to 29152456
Aminoacidopathy v0.10 ACAD8 Bryony Thompson Classified gene: ACAD8 as Green List (high evidence)
Aminoacidopathy v0.10 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Aminoacidopathy v0.9 DLD Bryony Thompson Marked gene: DLD as ready
Aminoacidopathy v0.9 DLD Bryony Thompson Gene: dld has been classified as Green List (High Evidence).
Aminoacidopathy v0.9 DLD Bryony Thompson Publications for gene: DLD were set to
Aminoacidopathy v0.8 DBT Bryony Thompson Marked gene: DBT as ready
Aminoacidopathy v0.8 DBT Bryony Thompson Gene: dbt has been classified as Green List (High Evidence).
Aminoacidopathy v0.8 DBT Bryony Thompson Publications for gene: DBT were set to 29152456
Aminoacidopathy v0.7 BCKDK Bryony Thompson Marked gene: BCKDK as ready
Aminoacidopathy v0.7 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Aminoacidopathy v0.7 BCKDK Bryony Thompson Publications for gene: BCKDK were set to
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Marked gene: BCKDHB as ready
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Gene: bckdhb has been classified as Green List (High Evidence).
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Publications for gene: BCKDHB were set to 29152456
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Marked gene: BCKDHA as ready
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Gene: bckdha has been classified as Green List (High Evidence).
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Publications for gene: BCKDHA were set to 29152456
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Publications for gene: BCAT2 were set to
Aminoacidopathy v0.3 PPM1K Bryony Thompson Marked gene: PPM1K as ready
Aminoacidopathy v0.3 PPM1K Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence).
Aminoacidopathy v0.3 PPM1K Bryony Thompson Publications for gene: PPM1K were set to 29152456
Aminoacidopathy v0.2 PPM1K Bryony Thompson Classified gene: PPM1K as Red List (low evidence)
Aminoacidopathy v0.2 PPM1K Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence).
Aminoacidopathy v0.0 DLD Bryony Thompson gene: DLD was added
gene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529
Aminoacidopathy v0.0 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058
Aminoacidopathy v0.0 BCKDK Bryony Thompson gene: BCKDK was added
gene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: 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 MONDO:0013970
Aminoacidopathy v0.0 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 29152456
Phenotypes for gene: MMADHC were set to methylmalonic aciduria and homocystinuria type cblD MONDO:0010185
Aminoacidopathy v0.0 MMAB Bryony Thompson gene: MMAB was added
gene: MMAB was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAB were set to 29152456
Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614
Aminoacidopathy v0.0 MMAA Bryony Thompson gene: MMAA was added
gene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 29152456
Phenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613
Aminoacidopathy v0.0 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 29152456
Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Aminoacidopathy v0.0 PCCB Bryony Thompson gene: PCCB was added
gene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 29152456
Phenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628
Aminoacidopathy v0.0 PCCA Bryony Thompson gene: PCCA was added
gene: PCCA was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 29152456
Phenotypes for gene: PCCA were set to propionic acidemia MONDO:0011628
Aminoacidopathy v0.0 ALDH6A1 Bryony Thompson gene: ALDH6A1 was added
gene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 29152456
Phenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579
Aminoacidopathy v0.0 HIBCH Bryony Thompson gene: HIBCH was added
gene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 29152456
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Aminoacidopathy v0.0 ACAD8 Bryony Thompson gene: ACAD8 was added
gene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 29152456
Phenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648
Aminoacidopathy v0.0 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 29152456
Phenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760
Aminoacidopathy v0.0 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 29152456
Phenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392
Aminoacidopathy v0.0 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 29152456
Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520
Aminoacidopathy v0.0 CLPB Bryony Thompson gene: CLPB was added
gene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 29152456
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561
Aminoacidopathy v0.0 SERAC1 Bryony Thompson gene: SERAC1 was added
gene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 29152456
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875
Aminoacidopathy v0.0 DNAJC19 Bryony Thompson gene: DNAJC19 was added
gene: DNAJC19 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 29152456
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria type 5 MONDO:0012435
Aminoacidopathy v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 29152456
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria type 3 MONDO:0009787
Aminoacidopathy v0.0 TAZ Bryony Thompson gene: TAZ was added
gene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29152456
Phenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359
Aminoacidopathy v0.0 AUH Bryony Thompson gene: AUH was added
gene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 29152456
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610
Aminoacidopathy v0.0 MCCC2 Bryony Thompson gene: MCCC2 was added
gene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to 29152456
Phenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
Aminoacidopathy v0.0 MCCC1 Bryony Thompson gene: MCCC1 was added
gene: MCCC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 29152456
Phenotypes for gene: MCCC1 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
Aminoacidopathy v0.0 IVD Bryony Thompson gene: IVD was added
gene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 29152456
Phenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475
Aminoacidopathy v0.0 PPM1K Bryony Thompson gene: PPM1K was added
gene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1K were set to 29152456
Phenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057
Aminoacidopathy v0.0 DBT Bryony Thompson gene: DBT was added
gene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBT were set to 29152456
Phenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563
Aminoacidopathy v0.0 BCKDHB Bryony Thompson gene: BCKDHB was added
gene: BCKDHB was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 29152456
Phenotypes for gene: BCKDHB were set to maple syrup urine disease type 1B MONDO:0023692
Aminoacidopathy v0.0 BCKDHA Bryony Thompson gene: BCKDHA was added
gene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 29152456
Phenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691
Aminoacidopathy v0.0 Bryony Thompson Added panel Disorders of branched chain amino acid metabolism
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v1.47 Bryony Thompson Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Rare Disease; Royal Melbourne Hospital
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.47 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Australian Genomics; Rare Disease; Royal Melbourne Hospital
Intellectual disability syndromic and non-syndromic v0.4927 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Genetic Epilepsy v0.1656 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Intellectual disability syndromic and non-syndromic v0.4926 PPFIBP1 Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Genetic Epilepsy v0.1655 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Genetic Epilepsy v0.1654 PPFIBP1 Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Microcephaly v1.150 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Microcephaly v1.149 PPFIBP1 Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Mendeliome v1.313 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Mendeliome v1.312 PPFIBP1 Zornitza Stark edited their review of gene: PPFIBP1: Changed publications: 35830857
Mendeliome v1.312 PPFIBP1 Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024
Mendeliome v1.312 PDZD8 Zornitza Stark Marked gene: PDZD8 as ready
Mendeliome v1.312 PDZD8 Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence).
Mendeliome v1.312 PDZD8 Zornitza Stark Classified gene: PDZD8 as Green List (high evidence)
Mendeliome v1.312 PDZD8 Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence).
Mendeliome v1.311 PDZD8 Zornitza Stark gene: PDZD8 was added
gene: PDZD8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDZD8 were set to 35227461
Phenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021
Review for gene: PDZD8 was set to GREEN
Added comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4926 PDZD8 Zornitza Stark Marked gene: PDZD8 as ready
Intellectual disability syndromic and non-syndromic v0.4926 PDZD8 Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4926 PDZD8 Zornitza Stark Classified gene: PDZD8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4926 PDZD8 Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4925 PDZD8 Zornitza Stark gene: PDZD8 was added
gene: PDZD8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDZD8 were set to 35227461
Phenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021
Review for gene: PDZD8 was set to GREEN
Added comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association.
Sources: Literature
Mendeliome v1.310 SLC31A1 Daniel Flanagan gene: SLC31A1 was added
gene: SLC31A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to PMID: 35913762
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)
Review for gene: SLC31A1 was set to RED
Added comment: SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list
Genetic Epilepsy v0.1654 SLC31A1 Daniel Flanagan gene: SLC31A1 was added
gene: SLC31A1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to PMID: 35913762
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)
Review for gene: SLC31A1 was set to RED
Added comment: SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4924 SLC31A1 Daniel Flanagan gene: SLC31A1 was added
gene: SLC31A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to PMID: 35913762
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)
Review for gene: SLC31A1 was set to RED
Added comment: SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Pituitary hormone deficiency v0.28 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Pituitary hormone deficiency v0.27 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Mendeliome v1.310 HNRNPH1 Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability to HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384
Mendeliome v1.309 HNRNPH1 Zornitza Stark Publications for gene: HNRNPH1 were set to 32335897; 29938792
Leukodystrophy - paediatric v0.278 TMEM163 Zornitza Stark Marked gene: TMEM163 as ready
Leukodystrophy - paediatric v0.278 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.278 TMEM163 Zornitza Stark Classified gene: TMEM163 as Green List (high evidence)
Leukodystrophy - paediatric v0.278 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.277 TMEM163 Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046
Intellectual disability syndromic and non-syndromic v0.4924 TMEM163 Zornitza Stark Marked gene: TMEM163 as ready
Intellectual disability syndromic and non-syndromic v0.4924 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4924 TMEM163 Zornitza Stark Classified gene: TMEM163 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4924 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4923 TMEM163 Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046
Mendeliome v1.308 TMEM163 Zornitza Stark Marked gene: TMEM163 as ready
Mendeliome v1.308 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Mendeliome v1.308 TMEM163 Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046
Mendeliome v1.307 TMEM163 Zornitza Stark Classified gene: TMEM163 as Green List (high evidence)
Mendeliome v1.307 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1654 TMEM163 Zornitza Stark Marked gene: TMEM163 as ready
Genetic Epilepsy v0.1654 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1654 TMEM163 Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to Hypomyelinating leukodystrophy, MONDO:0019046
Genetic Epilepsy v0.1654 TMEM163 Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046
Genetic Epilepsy v0.1653 TMEM163 Zornitza Stark Classified gene: TMEM163 as Green List (high evidence)
Genetic Epilepsy v0.1653 TMEM163 Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence).
Mendeliome v1.306 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483; Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Mendeliome v1.305 NBAS Zornitza Stark Publications for gene: NBAS were set to 31761904
Mendeliome v1.304 NBAS Zornitza Stark edited their review of gene: NBAS: Added comment: PMID 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.; Changed publications: 31761904, 35902954; Changed phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, Infantile liver failure syndrome 2, MIM# 616483, Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Marked gene: NBAS as ready
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Disorders of immune dysregulation v0.154 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Disorders of immune dysregulation v0.154 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Bone Marrow Failure v1.19 TYMS Zornitza Stark Marked gene: TYMS as ready
Bone Marrow Failure v1.19 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.19 TYMS Zornitza Stark Classified gene: TYMS as Amber List (moderate evidence)
Bone Marrow Failure v1.19 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Mendeliome v1.304 TYMS Zornitza Stark Marked gene: TYMS as ready
Mendeliome v1.304 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.18 TYMS Zornitza Stark reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.304 TYMS Zornitza Stark Classified gene: TYMS as Amber List (moderate evidence)
Mendeliome v1.304 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Mendeliome v1.303 TYMS Zornitza Stark reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1652 COX11 Zornitza Stark Marked gene: COX11 as ready
Genetic Epilepsy v0.1652 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 COX11 Zornitza Stark Marked gene: COX11 as ready
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.835 COX11 Zornitza Stark gene: COX11 was added
gene: COX11 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Mendeliome v1.303 COX11 Zornitza Stark Marked gene: COX11 as ready
Mendeliome v1.303 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mendeliome v1.303 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Mendeliome v1.303 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mendeliome v1.302 COX11 Zornitza Stark gene: COX11 was added
gene: COX11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4922 COX11 Zornitza Stark Marked gene: COX11 as ready
Intellectual disability syndromic and non-syndromic v0.4922 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1652 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Genetic Epilepsy v0.1652 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4922 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4922 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1651 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Genetic Epilepsy v0.1651 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mendeliome v1.301 SARS Zornitza Stark Publications for gene: SARS were set to 28236339; 34570399; 35790048
Intellectual disability syndromic and non-syndromic v0.4921 TMEM147 Zornitza Stark Marked gene: TMEM147 as ready
Intellectual disability syndromic and non-syndromic v0.4921 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4921 TMEM147 Zornitza Stark Classified gene: TMEM147 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4921 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Mendeliome v1.300 TMEM147 Zornitza Stark Marked gene: TMEM147 as ready
Mendeliome v1.300 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Mendeliome v1.300 TMEM147 Zornitza Stark Classified gene: TMEM147 as Green List (high evidence)
Mendeliome v1.300 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Marked gene: SAT1 as ready
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Marked gene: SAT1 as ready
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.299 SAT1 Zornitza Stark Phenotypes for gene: SAT1 were changed from to Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Keratosis follicularis spinulosa decalvans
Mendeliome v1.298 SAT1 Zornitza Stark Publications for gene: SAT1 were set to
Mendeliome v1.297 SAT1 Zornitza Stark Mode of inheritance for gene: SAT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.296 SAT1 Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence)
Mendeliome v1.296 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v1.48 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Hereditary Spastic Paraplegia - paediatric v1.48 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.276 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Leukodystrophy - paediatric v0.276 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.104 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Leukodystrophy - adult onset v0.104 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.104 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence)
Leukodystrophy - adult onset v0.104 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.276 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence)
Leukodystrophy - paediatric v0.276 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.48 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.48 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v1.2 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Hereditary Spastic Paraplegia - adult onset v1.2 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v1.2 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v1.2 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Mendeliome v1.295 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related
Mendeliome v1.294 CEP104 Zornitza Stark Publications for gene: CEP104 were set to 26477546
Intellectual disability syndromic and non-syndromic v0.4920 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related
Mendeliome v1.293 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Diamond-Blackfan anemia (MONDO:0015253)
Intellectual disability syndromic and non-syndromic v0.4919 CEP104 Zornitza Stark Publications for gene: CEP104 were set to 26477546
Intellectual disability syndromic and non-syndromic v0.4918 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Intellectual disability syndromic and non-syndromic v0.4918 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4918 NOTCH1 Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4918 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Mendeliome v1.292 GATA1 Zornitza Stark Publications for gene: GATA1 were set to
Mendeliome v1.291 GATA1 Zornitza Stark edited their review of gene: GATA1: Added comment: PMID 36029112: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.; Changed publications: 36029112; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835, Diamond-Blackfan anemia (MONDO:0015253)
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Diamond Blackfan anaemia v1.4 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Mendeliome v1.291 LGI3 Zornitza Stark Marked gene: LGI3 as ready
Mendeliome v1.291 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Mendeliome v1.291 LGI3 Zornitza Stark Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Mendeliome v1.290 LGI3 Zornitza Stark Classified gene: LGI3 as Green List (high evidence)
Mendeliome v1.290 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Mendeliome v1.289 LGI3 Zornitza Stark reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4917 LGI3 Zornitza Stark Marked gene: LGI3 as ready
Intellectual disability syndromic and non-syndromic v0.4917 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4917 LGI3 Zornitza Stark Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Intellectual disability syndromic and non-syndromic v0.4916 LGI3 Zornitza Stark Classified gene: LGI3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4916 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4915 LGI3 Zornitza Stark reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Marked gene: ADAMTS15 as ready
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Fetal anomalies v1.65 ADAMTS15 Zornitza Stark Marked gene: ADAMTS15 as ready
Fetal anomalies v1.65 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Fetal anomalies v1.65 ADAMTS15 Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence)
Fetal anomalies v1.65 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Fetal anomalies v1.64 ADAMTS15 Zornitza Stark gene: ADAMTS15 was added
gene: ADAMTS15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Mendeliome v1.289 TMEM147 Naomi Baker gene: TMEM147 was added
gene: TMEM147 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM147 were set to PMID: 36044892
Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related
Review for gene: TMEM147 was set to GREEN
Added comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4915 TMEM147 Naomi Baker gene: TMEM147 was added
gene: TMEM147 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM147 were set to PMID: 36044892
Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related
Review for gene: TMEM147 was set to GREEN
Added comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction.
Sources: Literature
Mendeliome v1.289 SARS Ee Ming Wong reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder, MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Autoinflammatory Disorders v0.163 SAT1 Ee Ming Wong gene: SAT1 was added
gene: SAT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SAT1 were set to 25977808
Phenotypes for gene: SAT1 were set to Systemic lupus erythematosus, MONDO:0007915, SAT1-related
Penetrance for gene: SAT1 were set to unknown
Review for gene: SAT1 was set to AMBER
gene: SAT1 was marked as current diagnostic
Added comment: - Two SAT1 loss of function variants reported in four SLE males across two American-African families, inherited from their unaffected mothers
- Using a minigene assay, the p.(Asp40Tyr) variant was shown to result in aberrant splicing
- Hemizygous knock-in male mice and homozygous female mice carrying the p.(Glu92Leufs*6) variant spontaneously developed lupus-like autoimmune disease, including splenomegaly, glomerular infiltration of leukocytes, proteinuria and elevated type I interferon scores
Sources: Literature
Mendeliome v1.289 ADAMTS15 Zornitza Stark Marked gene: ADAMTS15 as ready
Mendeliome v1.289 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Mendeliome v1.289 ADAMTS15 Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence)
Mendeliome v1.289 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence)
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1650 CAPRIN1 Zornitza Stark Marked gene: CAPRIN1 as ready
Genetic Epilepsy v0.1650 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1650 CAPRIN1 Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence)
Genetic Epilepsy v0.1650 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Incidentalome v0.217 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Incidentalome v0.217 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Mendeliome v1.288 CAPRIN1 Zornitza Stark Marked gene: CAPRIN1 as ready
Mendeliome v1.288 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4915 SARS Ee Ming Wong reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.288 CAPRIN1 Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence)
Mendeliome v1.288 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1649 COX11 Chern Lim gene: COX11 was added
gene: COX11 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
gene: COX11 was marked as current diagnostic
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4915 COX11 Chern Lim gene: COX11 was added
gene: COX11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
gene: COX11 was marked as current diagnostic
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Mendeliome v1.287 CBLB Alison Yeung Marked gene: CBLB as ready
Mendeliome v1.287 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Mendeliome v1.287 CBLB Alison Yeung Classified gene: CBLB as Green List (high evidence)
Mendeliome v1.287 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Mendeliome v1.286 CBLB Alison Yeung gene: CBLB was added
gene: CBLB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179
Review for gene: CBLB was set to GREEN
Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking.
Sources: Literature
Mendeliome v1.285 TYMS Lucy Spencer gene: TYMS was added
gene: TYMS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TYMS was set to Other
Publications for gene: TYMS were set to 35931051
Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780
Review for gene: TYMS was set to RED
Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.

The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.

The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.

Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.

Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1.
Sources: Literature
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Marked gene: CBLB as ready
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Classified gene: CBLB as Green List (high evidence)
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.152 CBLB Alison Yeung gene: CBLB was added
gene: CBLB was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179
Review for gene: CBLB was set to GREEN
Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking.
Sources: Literature
Mendeliome v1.285 CEP104 Belinda Chong reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Disorders of immune dysregulation v0.151 NBAS Belinda Chong gene: NBAS was added
gene: NBAS was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 35902954
Phenotypes for gene: NBAS were set to Hemophagocytic lymphohistiocytosis (HLH)
Review for gene: NBAS was set to GREEN
gene: NBAS was marked as current diagnostic
Added comment: 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.
Sources: Literature
Genetic Epilepsy v0.1649 TMEM163 Teresa Zhao gene: TMEM163 was added
gene: TMEM163 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to PMID: 35953447
Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy
Review for gene: TMEM163 was set to GREEN
Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.
Sources: Literature
Mendeliome v1.285 LGI3 Melanie Marty edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia
Mendeliome v1.285 HNRNPH1 Hazel Phillimore changed review comment from: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2).
In gnomAD, there are very few LOF variants. (LOF shows pLI = 1).
The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.; to: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2.
In gnomAD, there are very few LOF variants. (LOF shows pLI = 1).
The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.
Intellectual disability syndromic and non-syndromic v0.4915 LGI3 Melanie Marty edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia
Mendeliome v1.285 HNRNPH1 Hazel Phillimore reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35989590; Phenotypes: early onset high myopia, blindness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.18 TYMS Lucy Spencer gene: TYMS was added
gene: TYMS was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: TYMS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TYMS were set to 35931051
Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780
Review for gene: TYMS was set to RED
Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.

The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.

The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.

Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.

Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4915 CAPRIN1 Zornitza Stark Marked gene: CAPRIN1 as ready
Intellectual disability syndromic and non-syndromic v0.4915 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4915 TMEM163 Teresa Zhao gene: TMEM163 was added
gene: TMEM163 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to PMID: 35953447
Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy
Review for gene: TMEM163 was set to GREEN
Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4915 CAPRIN1 Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4915 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Mendeliome v1.285 TMEM163 Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.
Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.
Sources: Literature
Leukodystrophy - paediatric v0.275 TMEM163 Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.

Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.

Sources: Literature
Arthrogryposis v0.351 MET Zornitza Stark Marked gene: MET as ready
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Mendeliome v1.285 MET Zornitza Stark Phenotypes for gene: MET were changed from Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884
Arthrogryposis v0.351 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Mendeliome v1.284 MET Zornitza Stark Publications for gene: MET were set to
Arthrogryposis v0.351 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Mendeliome v1.283 MET Zornitza Stark changed review comment from: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; to: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.

AMBER for this association
Mendeliome v1.283 MET Zornitza Stark edited their review of gene: MET: Added comment: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; Changed publications: 30777867
Intellectual disability syndromic and non-syndromic v0.4914 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to 30544257
Incidentalome v0.217 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Mendeliome v1.283 TMEM163 Teresa Zhao gene: TMEM163 was added
gene: TMEM163 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to PMID: 35953447
Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy
Review for gene: TMEM163 was set to GREEN
Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.
Sources: Literature
Mendeliome v1.283 LGI3 Melanie Marty gene: LGI3 was added
gene: LGI3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to PMID: 35948005
Phenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Review for gene: LGI3 was set to GREEN
Added comment: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.
Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons.
Sources: Literature
Genetic Epilepsy v0.1649 CAPRIN1 Paul De Fazio gene: CAPRIN1 was added
gene: CAPRIN1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals).

All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity.
Sources: Literature
Mendeliome v1.283 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from Adams-Oliver syndrome 5 (MIM#616028) to Adams-Oliver syndrome 5 (MIM#616028); Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Leukodystrophy - paediatric v0.275 TMEM163 Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.
Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.

Sources: Literature
Mendeliome v1.282 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to 25963545; 25132448
Pituitary hormone deficiency v0.26 SIX3 Paul De Fazio reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: 35951005; Phenotypes: Non-acquired combined pituitary hormone deficiency MONDO:0018762; Mode of inheritance: Other; Current diagnostic: yes
Genetic Epilepsy v0.1649 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to 30544257
Mendeliome v1.281 NOTCH1 Zornitza Stark Mode of pathogenicity for gene: NOTCH1 was changed from to Other
Mendeliome v1.280 BUD13 Alison Yeung Marked gene: BUD13 as ready
Mendeliome v1.280 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.280 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Mendeliome v1.280 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1648 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung changed review comment from: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from two Algerian families.
Sources: Literature; to: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from only two Algerian families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4913 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.279 BUD13 Alison Yeung gene: BUD13 was added
gene: BUD13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUD13 were set to 35670808
Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573
Review for gene: BUD13 was set to AMBER
Added comment: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from only two Algerian families.
Sources: Literature
Genetic Epilepsy v0.1647 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.278 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to 30544257
Leukodystrophy - paediatric v0.275 TMEM163 Teresa Zhao changed review comment from: Four unrelated with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.
Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.
Sources: Literature
Regression v0.499 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Leukodystrophy - paediatric v0.275 TMEM163 Teresa Zhao gene: TMEM163 was added
gene: TMEM163 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to PMID: 35953447
Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy
Review for gene: TMEM163 was set to GREEN
Added comment: Four unrelated with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.
Sources: Literature
Mendeliome v1.277 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.216 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905; 35986737
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Marked gene: BUD13 as ready
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.216 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.216 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.498 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Leukodystrophy - paediatric v0.275 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Mendeliome v1.276 SAT1 Ee Ming Wong reviewed gene: SAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Incidentalome v0.215 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.6 BUD13 Alison Yeung gene: BUD13 was added
gene: BUD13 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUD13 were set to 35670808
Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573
Review for gene: BUD13 was set to AMBER
Added comment: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from two Algerian families.
Sources: Literature
Leukodystrophy - adult onset v0.103 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Leukodystrophy - adult onset. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Regression v0.497 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905
Regression v0.496 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.495 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Classified gene: UCHL1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.47 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Hereditary Neuropathy - complex v0.133 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UCHL1 were set to 35986737
Phenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related
Review for gene: UCHL1 was set to GREEN
Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4912 NOTCH1 Chern Lim changed review comment from: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature; to: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Mendeliome v1.276 NOTCH1 Chern Lim changed review comment from: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Missense and small inframe insertion variants in the negative regulatory region.; to: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Hereditary Spastic Paraplegia - adult onset v1.1 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.47 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Hereditary Spastic Paraplegia - paediatric v1.46 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905
Hereditary Spastic Paraplegia - paediatric v1.45 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v1.44 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.9 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905
Intellectual disability syndromic and non-syndromic v0.4912 CEP104 Belinda Chong reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic Atrophy v1.8 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.7 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007905, 23359680, 11555633, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.343 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 to Spastic paraplegia 79, autosomal recessive, MIM#615491; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Ataxia - paediatric v0.342 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Arthrogryposis v0.350 ADAMTS15 Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature
Ataxia - paediatric v0.341 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.340 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 28007905, 23359680, 11555633, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.276 ADAMTS15 Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4912 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Diamond Blackfan anaemia v1.3 GATA1 Daniel Flanagan gene: GATA1 was added
gene: GATA1 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA1 were set to PMID: 36029112
Phenotypes for gene: GATA1 were set to Diamond-Blackfan anemia (MONDO:0015253)
Review for gene: GATA1 was set to GREEN
Added comment: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4912 LGI3 Melanie Marty changed review comment from: Six individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.
Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons.
Sources: Literature; to: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.
Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons.
Sources: Literature
Mendeliome v1.276 ADAMTS15 Naomi Baker gene: ADAMTS15 was added
gene: ADAMTS15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to PMID: 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Mendeliome v1.276 NOTCH1 Chern Lim edited their review of gene: NOTCH1: Changed phenotypes: Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Intellectual disability syndromic and non-syndromic v0.4912 LGI3 Melanie Marty gene: LGI3 was added
gene: LGI3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to PMID: 35948005
Phenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Review for gene: LGI3 was set to GREEN
Added comment: Six individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.
Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4912 GRIN2A Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1646 GRIN2A Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.350 ADAMTS15 Naomi Baker gene: ADAMTS15 was added
gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to PMID: 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature
Mendeliome v1.276 CAPRIN1 Paul De Fazio gene: CAPRIN1 was added
gene: CAPRIN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals).

All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4912 CAPRIN1 Paul De Fazio gene: CAPRIN1 was added
gene: CAPRIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals).

All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity.
Sources: Literature
Arthrogryposis v0.350 MET Lucy Spencer gene: MET was added
gene: MET was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MET were set to 30777867
Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 11 (MIM#620019), AD
Review for gene: MET was set to AMBER
Added comment: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad.

Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts.

Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.
Sources: Literature
Mendeliome v1.276 LHX8 Alison Yeung gene: LHX8 was added
gene: LHX8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX8 were set to 36029299
Phenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related
Review for gene: LHX8 was set to GREEN
Added comment: Heterozygous LOF variants identified in 6 families with premature ovarian failure due to oocyte maturation arrest.
Sources: Literature
Mendeliome v1.275 NOTCH1 Chern Lim reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35947102; Phenotypes: leukoencephalopathy and calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 LHX8 Alison Yeung Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 LHX8 Alison Yeung Classified gene: LHX8 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 LHX8 Alison Yeung Gene: lhx8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 LHX8 Alison Yeung reviewed gene: LHX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 36029299; Phenotypes: Inherited premature ovarian failure, MONDO:0019852, LHX8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.275 GRIN2A Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.275 LEF1 Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related
Ectodermal Dysplasia v0.72 LEF1 Zornitza Stark Publications for gene: LEF1 were set to PMID: 32022899
Mendeliome v1.274 LEF1 Zornitza Stark Publications for gene: LEF1 were set to 32022899
Mendeliome v1.273 LEF1 Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.71 LEF1 Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.272 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Mendeliome v1.272 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Mendeliome v1.271 LEF1 Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.70 LEF1 Zornitza Stark Deleted their comment
Ectodermal Dysplasia v0.70 LEF1 Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related
Ectodermal Dysplasia v0.69 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Ectodermal Dysplasia v0.69 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Polydactyly v0.260 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Polydactyly v0.260 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.68 LEF1 Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.259 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Polydactyly v0.259 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Polydactyly v0.258 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Polydactyly v0.258 LEF1 Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence).
Polydactyly v0.258 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LEF1 were set to 35583550
Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related
Review for gene: LEF1 was set to GREEN
Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.
Sources: Literature
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Radial Ray Abnormalities v1.4 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.3 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LEF1 were set to 35583550
Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related
Review for gene: LEF1 was set to GREEN
Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4911 Zornitza Stark List of related panels changed from to Intellectual disability; HP:0001249; Neurodevelopmental delay; HP:0012758
Hereditary Neuropathy_CMT - isolated v1.18 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250
Hereditary Neuropathy_CMT - isolated v1.17 REEP1 Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.271 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250
Mendeliome v1.270 REEP1 Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.340 Zornitza Stark HPO terms changed from to Ataxia, HP:0001251
Ataxia - adult onset v0.170 Zornitza Stark HPO terms changed from to Ataxia, HP:0001251
Arthrogryposis v0.350 Zornitza Stark HPO terms changed from to Flexion contracture, HP:0001371
Aortopathy_Connective Tissue Disorders v1.69 Zornitza Stark HPO terms changed from to Aortic aneurysm, HP:0004942;Joint dislocation, HP:0001373;Cutis laxa, HP:0000973; Ectopia lentis, HP:0001083;Arachnodactyly, HP:0001166
Anophthalmia_Microphthalmia_Coloboma v1.29 Zornitza Stark HPO terms changed from to Anophthalmia, HP:0000528;Microphthalmia, HP:0000568;Coloboma, HP:0000589
Achromatopsia v1.4 Zornitza Stark HPO terms changed from to Achromatopsia, HP:0011516
Leukodystrophy - paediatric v0.275 Zornitza Stark HPO terms changed from to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500
Leukodystrophy - adult onset v0.103 Zornitza Stark HPO terms changed from to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500
Genetic Epilepsy v0.1646 Zornitza Stark HPO terms changed from to Seizure, HP:0001250
Intellectual disability syndromic and non-syndromic v0.4910 Zornitza Stark HPO terms changed from to Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758
Ciliopathies v1.34 TMEM218 Zornitza Stark Marked gene: TMEM218 as ready
Ciliopathies v1.34 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Ciliopathies v1.34 TMEM218 Zornitza Stark Classified gene: TMEM218 as Green List (high evidence)
Ciliopathies v1.34 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Ciliopathies v1.33 TMEM218 Zornitza Stark gene: TMEM218 was added
gene: TMEM218 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 35137054; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: More than 3 unrelated families reported, with a range of ciliopathy phenotypes, including Joubert syndrome, MKS and BBS.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4909 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Hereditary Spastic Paraplegia - paediatric v1.44 CCDC82 Zornitza Stark Marked gene: CCDC82 as ready
Hereditary Spastic Paraplegia - paediatric v1.44 CCDC82 Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.44 CCDC82 Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related
Hereditary Spastic Paraplegia - paediatric v1.43 CCDC82 Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Hereditary Spastic Paraplegia - paediatric v1.42 CCDC82 Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4908 CCDC82 Zornitza Stark Marked gene: CCDC82 as ready
Intellectual disability syndromic and non-syndromic v0.4908 CCDC82 Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4908 CCDC82 Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related
Intellectual disability syndromic and non-syndromic v0.4907 CCDC82 Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Intellectual disability syndromic and non-syndromic v0.4906 CCDC82 Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.270 CCDC82 Zornitza Stark Marked gene: CCDC82 as ready
Mendeliome v1.270 CCDC82 Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence).
Mendeliome v1.270 CCDC82 Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related
Mendeliome v1.269 CCDC82 Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Mendeliome v1.268 CCDC82 Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.63 NPNT Zornitza Stark Marked gene: NPNT as ready
Fetal anomalies v1.63 NPNT Zornitza Stark Gene: npnt has been classified as Green List (High Evidence).
Fetal anomalies v1.63 NPNT Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related
Fetal anomalies v1.62 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Fetal anomalies v1.61 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.268 NPNT Zornitza Stark Marked gene: NPNT as ready
Mendeliome v1.268 NPNT Zornitza Stark Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.268 NPNT Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related
Mendeliome v1.267 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Mendeliome v1.266 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Marked gene: NPNT as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Gene: npnt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.108 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.184 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Skeletal dysplasia v0.183 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, KIF5B-related, Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.266 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230 to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Mendeliome v1.265 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Mendeliome v1.265 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.265 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230
Mendeliome v1.264 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.184 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome; Cleft palate to Stickler syndrome, type VI, MIM# 620022
Clefting disorders v0.183 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022
Stickler Syndrome v1.4 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Stickler syndrome, type VI, MIM# 620022; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Stickler Syndrome v1.3 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD
Deafness_IsolatedAndComplex v1.144 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
Deafness_IsolatedAndComplex v1.143 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022
Mendeliome v1.264 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome, type VI, MIM# 620022; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Mendeliome v1.263 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, type VI, MIM# 620022, Deafness
Mendeliome v1.263 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Mendeliome v1.263 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.462 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Callosome v0.462 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.462 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Callosome v0.462 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1645 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Genetic Epilepsy v0.1645 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4906 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4906 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.461 LNPK Chirag Patel gene: LNPK was added
gene: LNPK was added to Callosome. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 35599435, 30032983
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Review for gene: LNPK was set to GREEN
Added comment: 3 unrelated consanguineous families with 4 affected individuals reported. WES revealed 3 novel homozygous frameshift variants in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). Some functional evidence with mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype.
Sources: Literature
Mendeliome v1.262 LNPK Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1644 LNPK Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4905 LNPK Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4905 CCDC82 Chirag Patel Classified gene: CCDC82 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4905 CCDC82 Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4905 CCDC82 Chirag Patel Classified gene: CCDC82 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4905 CCDC82 Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.42 CCDC82 Chirag Patel Classified gene: CCDC82 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.42 CCDC82 Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4904 CCDC82 Chirag Patel gene: CCDC82 was added
gene: CCDC82 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #
Review for gene: CCDC82 was set to GREEN
Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies.
Sources: Literature
Mendeliome v1.262 CCDC82 Chirag Patel Classified gene: CCDC82 as Green List (high evidence)
Mendeliome v1.262 CCDC82 Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.41 CCDC82 Chirag Patel gene: CCDC82 was added
gene: CCDC82 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #
Review for gene: CCDC82 was set to GREEN
Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies.
Sources: Literature
Mendeliome v1.261 CCDC82 Chirag Patel gene: CCDC82 was added
gene: CCDC82 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #
Review for gene: CCDC82 was set to GREEN
Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies.
Sources: Literature
Mendeliome v1.260 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Mendeliome v1.260 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.260 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Mendeliome v1.260 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.259 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Fetal anomalies v1.61 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Fetal anomalies v1.61 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Fetal anomalies v1.60 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.106 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.257 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Fetal anomalies v1.59 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Fetal anomalies v1.59 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Fetal anomalies v1.58 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Skeletal dysplasia v0.183 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Skeletal dysplasia v0.183 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.182 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4903 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to Developmental delay, hypotonia, and impaired language, MIM# 620012
Intellectual disability syndromic and non-syndromic v0.4902 FBXW7 Zornitza Stark edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012
Mendeliome v1.256 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058 to Developmental delay, hypotonia, and impaired language, MIM# 620012; Wilms tumour predisposition
Mendeliome v1.255 FBXW7 Zornitza Stark edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012, Wilms tumour predisposition
Prepair 1000+ v0.167 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Prepair 1000+ v0.167 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.167 VPS13A Zornitza Stark Publications for gene: VPS13A were set to
Prepair 1000+ v0.166 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
Prepair 1000+ v0.166 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.165 VPS13A Zornitza Stark Tag for review was removed from gene: VPS13A.
Prepair 1000+ v0.165 VPS13A Zornitza Stark changed review comment from: Appears to be adult onset disorder. For further review.; to: Appears to be adult onset disorder.
Prepair 1000+ v0.165 VPS13A Zornitza Stark edited their review of gene: VPS13A: Changed rating: RED
Prepair 1000+ v0.165 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Prepair 1000+ v0.164 RYR1 Zornitza Stark Tag for review was removed from gene: RYR1.
Prepair 1000+ v0.164 RYR1 Zornitza Stark commented on gene: RYR1: Hard to predict outcome in a screening context. However, multiple reports of severe perinatal outcomes.
Prepair 1000+ v0.164 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Prepair 1000+ v0.164 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.164 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3, MIM#604250 to Haemochromatosis, type 3, MIM#604250
Prepair 1000+ v0.163 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Prepair 1000+ v0.163 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 TFR2 Zornitza Stark Tag for review was removed from gene: TFR2.
Prepair 1000+ v0.162 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, type 3, MIM#604250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 TAT Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 PYGM Zornitza Stark Marked gene: PYGM as ready
Prepair 1000+ v0.162 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 SLC12A3 Zornitza Stark Marked gene: SLC12A3 as ready
Prepair 1000+ v0.162 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 PYGM Zornitza Stark Classified gene: PYGM as Red List (low evidence)
Prepair 1000+ v0.162 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.161 PYGM Zornitza Stark Tag for review was removed from gene: PYGM.
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Classified gene: SLC4A11 as Red List (low evidence)
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.160 SLC4A11 Zornitza Stark Tag for review was removed from gene: SLC4A11.
Prepair 1000+ v0.160 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.160 OAT Zornitza Stark Marked gene: OAT as ready
Prepair 1000+ v0.160 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Prepair 1000+ v0.160 SLC12A3 Zornitza Stark Classified gene: SLC12A3 as Red List (low evidence)
Prepair 1000+ v0.160 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.159 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
Prepair 1000+ v0.159 SLC12A3 Zornitza Stark reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM#263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.159 RS1 Zornitza Stark Marked gene: RS1 as ready
Prepair 1000+ v0.159 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.159 OAT Zornitza Stark Classified gene: OAT as Red List (low evidence)
Prepair 1000+ v0.159 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Prepair 1000+ v0.158 RS1 Zornitza Stark Classified gene: RS1 as Red List (low evidence)
Prepair 1000+ v0.158 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.157 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.157 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease (MIM#232600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 OAT Zornitza Stark reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, MIM# 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Classified gene: NR2E3 as Red List (low evidence)
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.156 NR2E3 Zornitza Stark reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.156 Zornitza Stark Panel name changed from Reproductive Carrier Screen_VCGS to Prepair 1000+
Regression v0.495 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Regression v0.495 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Regression v0.495 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Regression v0.494 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.493 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
Regression v0.493 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Regression v0.492 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.155 RPGR Zornitza Stark Tag for review tag was added to gene: RPGR.
Fetal anomalies v1.57 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014
Fetal anomalies v1.56 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.255 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014
Mendeliome v1.254 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.291 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014
Hydrops fetalis v0.290 MDFIC Zornitza Stark edited their review of gene: MDFIC: Changed phenotypes: Lymphatic malformation 12, MIM# 620014; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.272 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Additional findings_Paediatric v0.271 ACADS Zornitza Stark Classified gene: ACADS as Red List (low evidence)
Additional findings_Paediatric v0.271 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.270 ACADS Zornitza Stark changed review comment from: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. Some mildly affected individuals are being identified as part of newborn screening programs. However, a diagnosis of this disorder has the potential for avoidance of unnecessary investigations, therefore promoted to Green.; to: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability.
Additional findings_Paediatric v0.270 ACADS Zornitza Stark edited their review of gene: ACADS: Added comment: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4902 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4902 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4901 ACADS Zornitza Stark changed review comment from: Definitive by ClinGen. Metabolic decompensation. DD/ID is a feature.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated. DD/ID reported.
Intellectual disability syndromic and non-syndromic v0.4901 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Callosome v0.460 ACADS Zornitza Stark Marked gene: ACADS as ready
Callosome v0.460 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Callosome v0.460 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Callosome v0.459 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.458 ACADS Zornitza Stark Classified gene: ACADS as Red List (low evidence)
Callosome v0.458 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Callosome v0.457 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.834 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mitochondrial disease v0.833 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mitochondrial disease v0.833 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.832 ACADS Zornitza Stark reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.254 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mendeliome v1.254 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mendeliome v1.253 ACADS Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.
Fatty Acid Oxidation Defects v1.8 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v1.8 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mendeliome v1.253 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Fatty Acid Oxidation Defects v1.7 ACADS Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.
Fatty Acid Oxidation Defects v1.7 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Cholestasis v0.234 FOCAD Zornitza Stark changed review comment from: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review; to: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).

Cholestasis is a feature.


Sources: Expert Review
Cholestasis v0.234 FOCAD Zornitza Stark Marked gene: FOCAD as ready
Cholestasis v0.234 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Cholestasis v0.234 FOCAD Zornitza Stark Classified gene: FOCAD as Green List (high evidence)
Cholestasis v0.234 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Cholestasis v0.233 FOCAD Zornitza Stark gene: FOCAD was added
gene: FOCAD was added to Cholestasis. Sources: Expert Review
Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOCAD were set to 35864190
Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991
Review for gene: FOCAD was set to GREEN
Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review
Mendeliome v1.253 FOCAD Zornitza Stark Marked gene: FOCAD as ready
Mendeliome v1.253 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Mendeliome v1.253 FOCAD Zornitza Stark Classified gene: FOCAD as Green List (high evidence)
Mendeliome v1.253 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Mendeliome v1.252 FOCAD Zornitza Stark gene: FOCAD was added
gene: FOCAD was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOCAD were set to 35864190
Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991
Review for gene: FOCAD was set to GREEN
Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review
Liver Failure_Paediatric v1.19 FOCAD Zornitza Stark Phenotypes for gene: FOCAD were changed from Infantile liver failure, MONDO:0000023, FOCAD-related to Liver disease, severe congenital, MIM# 619991
Liver Failure_Paediatric v1.18 FOCAD Zornitza Stark edited their review of gene: FOCAD: Changed phenotypes: Liver disease, severe congenital, MIM# 619991
Liver Failure_Paediatric v1.18 FOCAD Zornitza Stark Marked gene: FOCAD as ready
Liver Failure_Paediatric v1.18 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.18 FOCAD Zornitza Stark Phenotypes for gene: FOCAD were changed from pediatric syndromic liver cirrhosis to Infantile liver failure, MONDO:0000023, FOCAD-related
Liver Failure_Paediatric v1.17 FOCAD Zornitza Stark Mode of pathogenicity for gene: FOCAD was changed from Other to None
Liver Failure_Paediatric v1.16 FOCAD Zornitza Stark Classified gene: FOCAD as Green List (high evidence)
Liver Failure_Paediatric v1.16 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.15 FOCAD Zornitza Stark reviewed gene: FOCAD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure, MONDO:0000023, FOCAD-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.56 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.55 SETD5 Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Classified gene: SETD5 as Green List (high evidence)
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.15 FOCAD Suliman Khan changed review comment from: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of this RNA helicase (OMIM: 619991).
Sources: Literature; to: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Literature, OMIM
Liver Failure_Paediatric v1.15 FOCAD Suliman Khan gene: FOCAD was added
gene: FOCAD was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOCAD were set to PMID: 35864190
Phenotypes for gene: FOCAD were set to pediatric syndromic liver cirrhosis
Penetrance for gene: FOCAD were set to Complete
Mode of pathogenicity for gene: FOCAD was set to Other
Review for gene: FOCAD was set to GREEN
gene: FOCAD was marked as current diagnostic
Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of this RNA helicase (OMIM: 619991).
Sources: Literature
Congenital diaphragmatic hernia v1.9 SETD5 Elena Savva gene: SETD5 was added
gene: SETD5 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD5 were set to PMID: 28263952; 24680889
Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23 MIM#615761
Review for gene: SETD5 was set to GREEN
Added comment: Internal VCGS patient with a de novo PTC, p.Lys766Glufs*35, and features including diaphragmatic hernia and ID.

PMID: 28263952 - describes an additional patient with a PTC, with diaphragmatic hernia and severe cerebral cortical dysplasia

PMID: 24680889 - 2 reported children with PTCs had inguinal hernia, 1 had paraumbilical hernia
Sources: Literature
Vascular Malformations SuperPanel v1.14 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Prepair 1000+ v0.155 RPGR Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.155 RYR1 Lilian Downie reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.251 TAF4 Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, TAF4-related
Mendeliome v1.250 TAF4 Zornitza Stark Publications for gene: TAF4 were set to 33875846; 28191890
Mendeliome v1.249 TAF4 Zornitza Stark Classified gene: TAF4 as Green List (high evidence)
Mendeliome v1.249 TAF4 Zornitza Stark Gene: taf4 has been classified as Green List (High Evidence).
Mendeliome v1.248 TAF4 Zornitza Stark edited their review of gene: TAF4: Changed rating: GREEN; Changed publications: 33875846, 28191890, 35904126; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related
Intellectual disability syndromic and non-syndromic v0.4901 TAF4 Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, TAF4-related
Intellectual disability syndromic and non-syndromic v0.4900 TAF4 Zornitza Stark Publications for gene: TAF4 were set to 33875846; 28191890
Intellectual disability syndromic and non-syndromic v0.4899 TAF4 Zornitza Stark Classified gene: TAF4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4899 TAF4 Zornitza Stark Gene: taf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1644 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Genetic Epilepsy v0.1644 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1644 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Genetic Epilepsy v0.1644 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1643 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Fetal anomalies v1.55 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Fetal anomalies v1.55 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Fetal anomalies v1.55 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Fetal anomalies v1.55 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Fetal anomalies v1.54 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Congenital Heart Defect v0.261 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Congenital Heart Defect v0.261 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.261 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Congenital Heart Defect v0.261 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.260 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Mendeliome v1.248 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Mendeliome v1.248 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Mendeliome v1.248 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Mendeliome v1.248 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Mendeliome v1.247 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4898 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Intellectual disability syndromic and non-syndromic v0.4898 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4898 ZMYND8 Zornitza Stark Phenotypes for gene: ZMYND8 were changed from Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Intellectual disability syndromic and non-syndromic v0.4897 ZMYND8 Zornitza Stark Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4896 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4896 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.26 TRAC Zornitza Stark Tag founder tag was added to gene: TRAC.
Mendeliome v1.246 TRAC Zornitza Stark Tag founder tag was added to gene: TRAC.
Intellectual disability syndromic and non-syndromic v0.4895 TAF4 Konstantinos Varvagiannis reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904126; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.4895 ZMYND8 Konstantinos Varvagiannis gene: ZMYND8 was added
gene: ZMYND8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Penetrance for gene: ZMYND8 were set to unknown
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Literature
Prepair 1000+ v0.155 MEFV Zornitza Stark Marked gene: MEFV as ready
Prepair 1000+ v0.155 MEFV Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence).
Prepair 1000+ v0.155 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.154 MEFV Zornitza Stark Classified gene: MEFV as Red List (low evidence)
Prepair 1000+ v0.154 MEFV Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence).
Prepair 1000+ v0.153 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Prepair 1000+ v0.153 MEFV Zornitza Stark reviewed gene: MEFV: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever, AR (MIM#249100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Marked gene: HOGA1 as ready
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Classified gene: HOGA1 as Red List (low evidence)
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.152 HOGA1 Zornitza Stark Tag for review was removed from gene: HOGA1.
Prepair 1000+ v0.152 HOGA1 Zornitza Stark reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type III (MIM#613616); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.152 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Prepair 1000+ v0.152 GRHPR Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence).
Prepair 1000+ v0.152 GRHPR Zornitza Stark Classified gene: GRHPR as Red List (low evidence)
Prepair 1000+ v0.152 GRHPR Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence).
Prepair 1000+ v0.151 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II (MIM#260000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.151 GJB1 Zornitza Stark commented on gene: GJB1
Prepair 1000+ v0.151 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Prepair 1000+ v0.151 GALK1 Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.151 GALK1 Zornitza Stark Classified gene: GALK1 as Red List (low evidence)
Prepair 1000+ v0.151 GALK1 Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.150 GALK1 Zornitza Stark Tag for review was removed from gene: GALK1.
Prepair 1000+ v0.150 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts (MIM#230200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.150 G6PD Zornitza Stark Marked gene: G6PD as ready
Prepair 1000+ v0.150 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.150 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from Hemolytic anemia, G6PD deficient (favism) (MIM#300908) to Haemolytic anaemia, G6PD deficient (favism) (MIM#300908)
Prepair 1000+ v0.149 G6PD Zornitza Stark Mode of inheritance for gene: G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.148 G6PD Zornitza Stark Classified gene: G6PD as Red List (low evidence)
Prepair 1000+ v0.148 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.147 G6PD Zornitza Stark Tag for review was removed from gene: G6PD.
Prepair 1000+ v0.147 G6PD Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.147 EYS Zornitza Stark Marked gene: EYS as ready
Prepair 1000+ v0.147 EYS Zornitza Stark Gene: eys has been classified as Red List (Low Evidence).
Prepair 1000+ v0.147 EYS Zornitza Stark Classified gene: EYS as Red List (low evidence)
Prepair 1000+ v0.147 EYS Zornitza Stark Gene: eys has been classified as Red List (Low Evidence).
Prepair 1000+ v0.146 EYS Zornitza Stark Tag for review was removed from gene: EYS.
Prepair 1000+ v0.146 EYS Zornitza Stark reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Red List (low evidence)
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.145 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Prepair 1000+ v0.145 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.144 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.144 CERKL Zornitza Stark Marked gene: CERKL as ready
Prepair 1000+ v0.144 CERKL Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.144 CERKL Zornitza Stark Classified gene: CERKL as Amber List (moderate evidence)
Prepair 1000+ v0.144 CERKL Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.143 CERKL Zornitza Stark Tag for review was removed from gene: CERKL.
Prepair 1000+ v0.143 CERKL Zornitza Stark reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 33322828; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.143 BTD Zornitza Stark Marked gene: BTD as ready
Prepair 1000+ v0.143 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.143 BTD Zornitza Stark Classified gene: BTD as Amber List (moderate evidence)
Prepair 1000+ v0.143 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.142 BTD Zornitza Stark reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency (MIM#253260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.246 TRAC Seb Lunke Classified gene: TRAC as Amber List (moderate evidence)
Mendeliome v1.246 TRAC Seb Lunke Added comment: Comment on list classification: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001) Also note annotation issues in certain variant curation and annotation tools.
Mendeliome v1.246 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.142 AIRE Zornitza Stark Marked gene: AIRE as ready
Prepair 1000+ v0.142 AIRE Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.142 AIRE Zornitza Stark Publications for gene: AIRE were set to 35521792; 28323927
Prepair 1000+ v0.141 AIRE Zornitza Stark Classified gene: AIRE as Amber List (moderate evidence)
Prepair 1000+ v0.141 AIRE Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.140 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
Combined Immunodeficiency v1.26 TRAC Seb Lunke Classified gene: TRAC as Amber List (moderate evidence)
Combined Immunodeficiency v1.26 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.140 AIRE Zornitza Stark reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.25 TRAC Seb Lunke reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.140 C8B Zornitza Stark Tag for review was removed from gene: C8B.
Prepair 1000+ v0.140 TRAC Zornitza Stark Marked gene: TRAC as ready
Prepair 1000+ v0.140 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Prepair 1000+ v0.140 TRAC Zornitza Stark Tag for review was removed from gene: TRAC.
Prepair 1000+ v0.140 RPL10 Zornitza Stark Tag for review was removed from gene: RPL10.
Prepair 1000+ v0.140 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Prepair 1000+ v0.140 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Prepair 1000+ v0.140 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 (MIM#300998) to Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998
Prepair 1000+ v0.139 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Prepair 1000+ v0.138 TRAC Zornitza Stark Classified gene: TRAC as Red List (low evidence)
Prepair 1000+ v0.138 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Prepair 1000+ v0.137 TRAC Zornitza Stark reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.137 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Prepair 1000+ v0.137 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Prepair 1000+ v0.136 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.136 AIRE Crystle Lee edited their review of gene: AIRE: Changed publications: 35521792, 28323927, 33352647
Prepair 1000+ v0.136 VPS13A Zornitza Stark reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29518281; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.136 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Prepair 1000+ v0.136 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.136 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Minicore myopathy with external ophthalmoplegia, 255320 (3) to Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000
Prepair 1000+ v0.135 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000, Central core disease, MIM# 117000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PROC Zornitza Stark Marked gene: PROC as ready
Prepair 1000+ v0.135 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PROC Zornitza Stark Tag for review was removed from gene: PROC.
Prepair 1000+ v0.135 PROC Zornitza Stark reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PRKRA Zornitza Stark changed review comment from: Founder variant but multiple other families reported.

Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection.; to: Founder variant but multiple other families reported.

Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low.
Prepair 1000+ v0.135 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Prepair 1000+ v0.135 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PRKRA Zornitza Stark Tag for review was removed from gene: PRKRA.
Prepair 1000+ v0.135 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Prepair 1000+ v0.135 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PLG Zornitza Stark Marked gene: PLG as ready
Prepair 1000+ v0.135 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PLG Zornitza Stark Publications for gene: PLG were set to
Prepair 1000+ v0.134 PLG Zornitza Stark Tag for review was removed from gene: PLG.
Prepair 1000+ v0.134 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.134 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Prepair 1000+ v0.134 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.134 PGK1 Zornitza Stark Publications for gene: PGK1 were set to
Prepair 1000+ v0.133 PGK1 Zornitza Stark Tag for review was removed from gene: PGK1.
Prepair 1000+ v0.133 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.133 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Prepair 1000+ v0.132 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Prepair 1000+ v0.131 PDHA1 Zornitza Stark Tag for review was removed from gene: PDHA1.
Prepair 1000+ v0.131 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.131 KCNQ1 Zornitza Stark Tag for review was removed from gene: KCNQ1.
Prepair 1000+ v0.131 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Prepair 1000+ v0.131 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.131 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, brown oculocutaneous, 203200 (3) to Albinism, oculocutaneous, type II (MIM#203200)
Prepair 1000+ v0.130 OCA2 Zornitza Stark Classified gene: OCA2 as Red List (low evidence)
Prepair 1000+ v0.130 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.129 OCA2 Zornitza Stark Tag for review was removed from gene: OCA2.
Prepair 1000+ v0.129 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.129 NEB Zornitza Stark Marked gene: NEB as ready
Prepair 1000+ v0.129 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Prepair 1000+ v0.129 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 (3) to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)
Prepair 1000+ v0.128 NEB Zornitza Stark Publications for gene: NEB were set to
Prepair 1000+ v0.127 MPZ Zornitza Stark Marked gene: MPZ as ready
Prepair 1000+ v0.127 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Prepair 1000+ v0.127 MPZ Zornitza Stark Publications for gene: MPZ were set to
Prepair 1000+ v0.126 MPZ Zornitza Stark Tag for review was removed from gene: MPZ.
Prepair 1000+ v0.126 NEB Zornitza Stark Tag for review was removed from gene: NEB.
Prepair 1000+ v0.126 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 LDLR Zornitza Stark Marked gene: LDLR as ready
Prepair 1000+ v0.126 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 MPZ Zornitza Stark changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset.
Prepair 1000+ v0.126 MPZ Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 LDLR Zornitza Stark Tag for review was removed from gene: LDLR.
Prepair 1000+ v0.126 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 IGHM Zornitza Stark Marked gene: IGHM as ready
Prepair 1000+ v0.126 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Prepair 1000+ v0.126 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 IGHM Zornitza Stark Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3)
Prepair 1000+ v0.125 IGHM Zornitza Stark Publications for gene: IGHM were set to
Prepair 1000+ v0.124 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Prepair 1000+ v0.123 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.123 IGHM Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4895 ADAR Zornitza Stark Marked gene: ADAR as ready
Intellectual disability syndromic and non-syndromic v0.4895 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4895 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010
Intellectual disability syndromic and non-syndromic v0.4894 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4893 ADAR Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4893 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM#614583
Intellectual disability syndromic and non-syndromic v0.4892 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4891 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM#614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4891 ACTB Zornitza Stark Marked gene: ACTB as ready
Intellectual disability syndromic and non-syndromic v0.4891 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4891 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.4890 ACTB Zornitza Stark Publications for gene: ACTB were set to
Intellectual disability syndromic and non-syndromic v0.4889 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4888 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220674; Phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.492 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Regression v0.492 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Regression v0.492 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559
Regression v0.491 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Regression v0.490 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.489 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4888 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Intellectual disability syndromic and non-syndromic v0.4888 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4888 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559
Intellectual disability syndromic and non-syndromic v0.4887 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Intellectual disability syndromic and non-syndromic v0.4886 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4885 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4885 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Intellectual disability syndromic and non-syndromic v0.4885 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4885 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from to Adrenoleukodystrophy, MIM# 300100
Intellectual disability syndromic and non-syndromic v0.4884 ABCD1 Zornitza Stark Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4883 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4883 ACADS Zornitza Stark Marked gene: ACADS as ready
Intellectual disability syndromic and non-syndromic v0.4883 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4883 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Intellectual disability syndromic and non-syndromic v0.4882 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4881 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4881 ACADM Zornitza Stark Marked gene: ACADM as ready
Intellectual disability syndromic and non-syndromic v0.4881 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4881 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Intellectual disability syndromic and non-syndromic v0.4880 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4879 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4879 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Intellectual disability syndromic and non-syndromic v0.4878 PAX5 Zornitza Stark Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380
Intellectual disability syndromic and non-syndromic v0.4877 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4876 PAX5 Zornitza Stark reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.245 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from Neurodevelopmental disorder MONDO:0700092, PAX5-related to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Mendeliome v1.244 PAX5 Zornitza Stark Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380
Mendeliome v1.243 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.242 PAX5 Zornitza Stark reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.119 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Predominantly Antibody Deficiency v0.119 PAX5 Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.119 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Predominantly Antibody Deficiency v0.118 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.117 PAX5 Zornitza Stark Classified gene: PAX5 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.117 PAX5 Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.52 IFT140 Chirag Patel reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.4 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Review for gene: PRIM1 was set to AMBER
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Lipodystrophy was part of the phenotype.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Fetal anomalies v1.53 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Fetal anomalies v1.52 PRIM1 Zornitza Stark Tag deep intronic tag was added to gene: PRIM1.
Tag founder tag was added to gene: PRIM1.
Fetal anomalies v1.52 PRIM1 Zornitza Stark reviewed gene: PRIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005; Mode of inheritance: None
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.22 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 PRIM1 Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Microcephaly v1.149 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Microcephaly v1.148 PRIM1 Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Mendeliome v1.242 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Mendeliome v1.241 PRIM1 Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Intellectual disability syndromic and non-syndromic v0.4876 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Intellectual disability syndromic and non-syndromic v0.4875 SMG9 Zornitza Stark Publications for gene: SMG9 were set to 27018474; 31390136
Intellectual disability syndromic and non-syndromic v0.4874 SMG9 Zornitza Stark edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Mendeliome v1.241 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Mendeliome v1.240 SMG9 Zornitza Stark Publications for gene: SMG9 were set to 27018474; 31390136
Mendeliome v1.239 SMG9 Zornitza Stark edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Predominantly Antibody Deficiency v0.116 PAX5 Peter McNaughton gene: PAX5 was added
gene: PAX5 was added to Predominantly Antibody Deficiency. Sources: Literature
Mode of inheritance for gene: PAX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX5 were set to PMID: 35947077
Phenotypes for gene: PAX5 were set to Hypogammaglobulinaemia
Review for gene: PAX5 was set to AMBER
Added comment: 2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest.
Sources: Literature
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Hereditary Neuropathy - complex v0.131 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Hereditary Neuropathy - complex v0.130 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.215 ANXA11 Zornitza Stark Tag adult onset neurodegenerative tag was added to gene: ANXA11.
Hereditary Neuropathy - complex v0.130 MYH14 Elena Savva edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.

PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L.
- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described.


Single recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632
Incidentalome v0.215 APC Zornitza Stark Marked gene: APC as ready
Incidentalome v0.215 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Incidentalome v0.215 APC Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100
Incidentalome v0.214 APC Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.213 APC Zornitza Stark Tag cancer tag was added to gene: APC.
Incidentalome v0.213 APC Zornitza Stark reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.213 A2M Zornitza Stark Marked gene: A2M as ready
Incidentalome v0.213 A2M Zornitza Stark Gene: a2m has been classified as Red List (Low Evidence).
Incidentalome v0.213 A2M Zornitza Stark Phenotypes for gene: A2M were changed from to Alzheimer disease, MONDO:0004975
Incidentalome v0.212 A2M Zornitza Stark Mode of inheritance for gene: A2M was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.211 A2M Zornitza Stark Classified gene: A2M as Red List (low evidence)
Incidentalome v0.211 A2M Zornitza Stark Gene: a2m has been classified as Red List (Low Evidence).
Incidentalome v0.210 A2M Zornitza Stark Tag adult onset neurodegenerative tag was added to gene: A2M.
Incidentalome v0.210 A2M Zornitza Stark reviewed gene: A2M: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975; Mode of inheritance: None
Incidentalome v0.210 GPD1L Zornitza Stark edited their review of gene: GPD1L: Changed rating: RED
Incidentalome v0.210 GPD1L Zornitza Stark Tag cardiac tag was added to gene: GPD1L.
Incidentalome v0.210 ANK2 Zornitza Stark Tag cardiac tag was added to gene: ANK2.
Incidentalome v0.210 TNNT2 Zornitza Stark Tag cardiac tag was added to gene: TNNT2.
Incidentalome v0.210 KCNE1 Zornitza Stark Tag cardiac tag was added to gene: KCNE1.
Incidentalome v0.210 CACNA1C Zornitza Stark Tag review tag was added to gene: CACNA1C.
Incidentalome v0.210 CASQ2 Zornitza Stark Tag cardiac tag was added to gene: CASQ2.
Incidentalome v0.210 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Incidentalome v0.210 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Incidentalome v0.210 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Incidentalome v0.209 CASQ2 Zornitza Stark Publications for gene: CASQ2 were set to
Incidentalome v0.208 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.207 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.206 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Incidentalome v0.206 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Incidentalome v0.206 SNTA1 Zornitza Stark Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955
Incidentalome v0.205 SNTA1 Zornitza Stark Publications for gene: SNTA1 were set to
Incidentalome v0.204 SNTA1 Zornitza Stark Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.203 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Incidentalome v0.203 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Incidentalome v0.202 SNTA1 Zornitza Stark Tag disputed tag was added to gene: SNTA1.
Tag cardiac tag was added to gene: SNTA1.
Incidentalome v0.202 SNTA1 Zornitza Stark reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12, MIM# 612955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.202 SCN4B Zornitza Stark Tag disputed tag was added to gene: SCN4B.
Incidentalome v0.202 SCN4B Zornitza Stark Marked gene: SCN4B as ready
Incidentalome v0.202 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Incidentalome v0.202 SCN4B Zornitza Stark Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM# 611819
Incidentalome v0.201 SCN4B Zornitza Stark Publications for gene: SCN4B were set to
Incidentalome v0.200 SCN4B Zornitza Stark Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.199 SCN4B Zornitza Stark Classified gene: SCN4B as Red List (low evidence)
Incidentalome v0.199 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Incidentalome v0.198 SCN4B Zornitza Stark Tag cardiac tag was added to gene: SCN4B.
Incidentalome v0.198 KCNE2 Zornitza Stark Marked gene: KCNE2 as ready
Incidentalome v0.198 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.198 KCNE2 Zornitza Stark Phenotypes for gene: KCNE2 were changed from to Long QT syndrome 6, MIM# 613693
Incidentalome v0.197 KCNE2 Zornitza Stark Publications for gene: KCNE2 were set to
Incidentalome v0.196 KCNE2 Zornitza Stark Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.195 KCNE2 Zornitza Stark Classified gene: KCNE2 as Amber List (moderate evidence)
Incidentalome v0.195 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.194 KCNE2 Zornitza Stark Tag cardiac tag was added to gene: KCNE2.
Incidentalome v0.194 KCNE2 Zornitza Stark reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 6, MIM# 613693; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.194 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Incidentalome v0.194 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence).
Incidentalome v0.194 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695
Incidentalome v0.193 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.192 KCNE1 Zornitza Stark edited their review of gene: KCNE1: Changed rating: GREEN; Changed phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Long QT syndrome 5, MIM# 613695; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.191 KCNQ1 Zornitza Stark Tag cardiac tag was added to gene: KCNQ1.
Incidentalome v0.191 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Incidentalome v0.191 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Incidentalome v0.191 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500; Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome, MIM# 220400; Atrial fibrillation, familial, 3, MIM# 607554
Incidentalome v0.190 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.189 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500, Short QT syndrome 2, MIM# 609621, Jervell and Lange-Nielsen syndrome, MIM# 220400, Atrial fibrillation, familial, 3, MIM# 607554; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.189 KCNH2 Zornitza Stark Tag cardiac tag was added to gene: KCNH2.
Incidentalome v0.189 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Incidentalome v0.189 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Incidentalome v0.189 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688; Short QT syndrome , MIM#1 609620
Incidentalome v0.188 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to
Incidentalome v0.187 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.186 KCNH2 Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 2, MIM# 613688, Short QT syndrome , MIM#1 609620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.186 CACNB2 Zornitza Stark Tag cardiac tag was added to gene: CACNB2.
Incidentalome v0.186 CACNB2 Zornitza Stark Marked gene: CACNB2 as ready
Incidentalome v0.186 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Incidentalome v0.186 CACNB2 Zornitza Stark Phenotypes for gene: CACNB2 were changed from to Brugada syndrome 4, MIM# 611876
Incidentalome v0.185 CACNB2 Zornitza Stark Publications for gene: CACNB2 were set to
Incidentalome v0.184 CACNB2 Zornitza Stark Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.183 CACNB2 Zornitza Stark Classified gene: CACNB2 as Red List (low evidence)
Incidentalome v0.183 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Incidentalome v0.182 CACNB2 Zornitza Stark reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome 4, MIM# 611876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.182 PRKAG2 Zornitza Stark Tag cardiac tag was added to gene: PRKAG2.
Incidentalome v0.182 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Incidentalome v0.182 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Incidentalome v0.182 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Incidentalome v0.181 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to
Incidentalome v0.180 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.179 PRKAG2 Zornitza Stark Deleted their comment
Incidentalome v0.179 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Added comment: Variants associated with cardiomyopathy, conduction disease, and ventricular pre-excitation. More than 50 unrelated individuals reported. Can present with isolated HCM.; Changed publications: 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740
Incidentalome v0.179 MYL3 Zornitza Stark Tag cardiac tag was added to gene: MYL3.
Incidentalome v0.179 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Incidentalome v0.179 MYL3 Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence).
Incidentalome v0.179 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Incidentalome v0.178 MYL3 Zornitza Stark Publications for gene: MYL3 were set to
Incidentalome v0.177 MYL3 Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.176 MYL3 Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.176 MYL2 Zornitza Stark Marked gene: MYL2 as ready
Incidentalome v0.176 MYL2 Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence).
Incidentalome v0.176 MYL2 Zornitza Stark Tag cardiac tag was added to gene: MYL2.
Incidentalome v0.176 MYL2 Zornitza Stark Phenotypes for gene: MYL2 were changed from to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758
Incidentalome v0.175 MYL2 Zornitza Stark Publications for gene: MYL2 were set to