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Additional findings_Paediatric v0.262 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.257 AIP Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Additional findings_Paediatric v0.184 PIGA Zornitza Stark edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.124 AR Kristin Rigbye reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.106 F13B Lilian Downie changed review comment from: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature.
Sources: Expert list; to: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion?
Sources: Expert list
Additional findings_Paediatric v0.106 F13B Lilian Downie gene: F13B was added
gene: F13B was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13B were set to PMID: 31013569
Phenotypes for gene: F13B were set to Factor XIIIB deficiency MIM# 613235
Review for gene: F13B was set to RED
Added comment: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature.
Sources: Expert list
Additional findings_Paediatric v0.101 GATA2 Lilian Downie gene: GATA2 was added
gene: GATA2 was added to Newborn Screening_BabySeq. Sources: Expert list
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
Review for gene: GATA2 was set to AMBER
Added comment: Gene not curated by Babyseq, included in NC NEXUS. This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Allelic disease with phenotypic overalp lymphoedema with SNHL (Emberger syndrome). Onset of immunodeficiency may not be until later childhood early adulthood.
Sources: Expert list
Additional findings_Paediatric v0.101 IL7R Lilian Downie gene: IL7R was added
gene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list
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
Review for gene: IL7R was set to GREEN
Added comment: SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.61 DCX Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from Breast cancer to Fanconi anemia, complementation group N, MIM# 610832
Additional findings_Paediatric v0.32 PALB2 Lilian Downie reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.12 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.12 AR Zornitza Stark edited their review of gene: AR: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.2 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
Additional findings_Paediatric v0.2 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
Additional findings_Paediatric v0.2 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
Additional findings_Paediatric v0.2 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
Additional findings_Paediatric v0.2 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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 Arts syndrome
Additional findings_Paediatric v0.2 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Epileptic encephalopathy, early-onset
Additional findings_Paediatric v0.2 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 GPC4 Zornitza Stark gene: GPC4 was added
gene: GPC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 FAAH2 Zornitza Stark gene: FAAH2 was added
gene: FAAH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
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
Additional findings_Paediatric v0.2 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
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
Additional findings_Paediatric v0.2 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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 Wiskott-Aldrich syndrome
Additional findings_Paediatric v0.2 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II
Additional findings_Paediatric v0.2 STS Zornitza Stark gene: STS was added
gene: STS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 RS1 Zornitza Stark gene: RS1 was added
gene: RS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PEX7 Zornitza Stark Added phenotypes Rhizomelic chondrodysplasia punctata for gene: PEX7
Additional findings_Paediatric v0.2 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 CHILD syndrome
Additional findings_Paediatric v0.2 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.2 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
Additional findings_Paediatric v0.2 CACNA1F Zornitza Stark Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F
Additional findings_Paediatric v0.2 BRCA2 Zornitza Stark Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2
Additional findings_Paediatric v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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 Dyserythropoietic anemia with thrombocytopenia
Additional findings_Paediatric v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 Emery-Dreifuss muscular dystrophy
Additional findings_Paediatric v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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 Hemophilia B
Additional findings_Paediatric v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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 Hemophilia A
Additional findings_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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
Additional findings_Paediatric v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis
Additional findings_Paediatric v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1
Additional findings_Paediatric v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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 syndrome
Additional findings_Paediatric v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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
Additional findings_Paediatric v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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
Additional findings_Paediatric v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
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