Hereditary ataxia with onset in adulthood
Gene: B4GAT1The 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
Phenotypes
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