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| BabyScreen+ newborn screening v1.114 | BTK | Tommy Li Added phenotypes Agammaglobulinemia, X-linked 1, MIM#300755 for gene: BTK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1675 | BTK | Zornitza Stark Tag immunological tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK |
Zornitza Stark changed review comment from: Well established gene-disease association. Childhood onset. Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable. Childhood onset. Treatable with IVIG. |
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| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark Marked gene: BTK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark Gene: btk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark Tag treatable tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.288 | BTK |
Zornitza Stark commented on gene: BTK: Well established gene-disease association. Childhood onset. Treatable with IVIG. |
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| BabyScreen+ newborn screening v0.288 | BTK | Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.266 | BTK | John Christodoulou reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755 |
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