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| Additional findings_Paediatric v0.229 | PLG | Zornitza Stark Phenotypes for gene: PLG were changed from Plasminogen deficiency to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.226 | PLG | Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.77 | DUOXA2 | Zornitza Stark Phenotypes for gene: DUOXA2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 5, MIM# 274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.75 | IYD | Zornitza Stark Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 4, MIM# 274800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | IYD | Lilian Downie reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18434651, 18765512, 30240412; Phenotypes: Thyroid dyshormonogenesis 4 MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.63 | DUOXA2 | Zornitza Stark edited their review of gene: DUOXA2: Changed phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis |
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| Additional findings_Paediatric v0.2 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis |
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| Additional findings_Paediatric v0.2 | TPO |
Zornitza Stark gene: TPO was added gene: TPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A |
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| Additional findings_Paediatric v0.2 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 |
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| Additional findings_Paediatric v0.2 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 |
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| Additional findings_Paediatric v0.2 | PLG |
Zornitza Stark gene: PLG was added gene: PLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency |
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| Additional findings_Paediatric v0.2 | NOG |
Zornitza Stark gene: NOG was added gene: NOG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A |
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| Additional findings_Paediatric v0.2 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome |
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| Additional findings_Paediatric v0.2 | FGG | Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGB | Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGA | Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FAM58A | Zornitza Stark Added phenotypes Syndactyly - telecanthus - anogenital and renal malformations for gene: FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DUOX2 | Zornitza Stark Added phenotypes Thyroid dyshormonogenesis for gene: DUOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FGG |
Zornitza Stark gene: FGG was added gene: FGG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGG were set to Afibrinogenaemia |
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| Additional findings_Paediatric v0.0 | FGB |
Zornitza Stark gene: FGB was added gene: FGB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGB were set to Afibrinogenaemia |
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| Additional findings_Paediatric v0.0 | FGA |
Zornitza Stark gene: FGA was added gene: FGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenaemia |
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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 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis |
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