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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 v0.184 | 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 |
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| 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 |
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| 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 v0.12 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Additional findings_Paediatric v0.2 | BPGM |
Zornitza Stark gene: BPGM was added gene: BPGM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Additional findings_Paediatric v0.2 | MUTYH |
Zornitza Stark gene: MUTYH was added gene: MUTYH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis |
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| Additional findings_Paediatric v0.2 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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