Activity
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| Ataxia and cerebellar anomalies - narrow panel v3.30 | B4GAT1 | Eleanor Williams Tag Q3_21_rating was removed from gene: B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | B4GAT1 | Eleanor Williams reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | B4GAT1 |
Eleanor Williams Source Expert Review Green was added to B4GAT1. Source NHS GMS was added to B4GAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.241 | B4GAT1 | Ivone Leong reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.241 | B4GAT1 | Ivone Leong Publications for gene: B4GAT1 were set to 23359570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.240 | B4GAT1 | Ivone Leong Tag Q3_21_rating tag was added to gene: B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | B4GAT1 |
Ellen McDonagh gene: B4GAT1 was added gene: B4GAT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 |
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