Ataxia and cerebellar anomalies - narrow panel
Gene: B4GAT1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
This gene is associated with a phenotype in OMIM but not Gene2Phenotype. PMID:23877401 and 23359570 describes 2 unrelated families who have variants in B4GAT1 and have Walker-Warburg syndrome. There are also mouse models for this gene-disease association. The condition occurs in utero and affected individuals die early on in life. There is enough evidence for this gene to be Green.Created: 18 Oct 2021, 10:56 a.m. | Last Modified: 18 Oct 2021, 10:56 a.m.
Panel Version: 2.241
Tag Q3_21_rating was removed from gene: B4GAT1.
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)
Publications for gene: B4GAT1 were set to 23359570
Tag Q3_21_rating tag was added to gene: B4GAT1.
Rebecca Foulger: Comment on list classification
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