Hereditary ataxia - adult onsetGene: B4GAT1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
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. The condition occurs in utero and affected individuals die early on in life. This gene should be demoted to Amber or Red as it is not adult onset.
Created: 18 Oct 2021, 10:54 a.m. | Last Modified: 18 Oct 2021, 10:54 a.m.
Panel Version: 2.90
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Very early onset, appears to be lethal in early infancy. Cerebellar abnormalities reported. Two individual families but functional evidence for compound het missenses reported in first.
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy type A13, 615287
Tag Q3_21_rating was removed from gene: B4GAT1.
Source Expert Review Red was added to B4GAT1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_21_rating tag was added to gene: B4GAT1.
Publications for gene: B4GAT1 were set to
Mode of inheritance for gene: B4GAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: b4gat1 has been classified as Green List (High Evidence).
Added phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 for gene: B4GAT1
Source NHS GMS was added to B4GAT1.
gene: B4GAT1 was added gene: B4GAT1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: B4GAT1 was set to