Malformations of cortical development
Gene: B4GAT1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 17 Aug 2021, 2:05 p.m. | Last Modified: 17 Aug 2021, 2:05 p.m.
Panel Version: 2.59
Two families and two animal models. Extensive brain abnormalities reported.Created: 24 Aug 2020, 11:06 a.m. | Last Modified: 24 Aug 2020, 11:06 a.m.
Panel Version: 2.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Publications
Variants in this GENE are reported as part of current diagnostic practice
Only one familyCreated: 19 Dec 2016, 2:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
Publications
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)
Tag Q3_21_rating tag was added to gene: B4GAT1.
Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Phenotypes for gene: B4GAT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Publications for gene: B4GAT1 were set to 23359570
This gene has been classified as Red List (Low Evidence).
B4GAT1 was created by agardham
B4GAT1 was added to Malformations of cortical developmentpanel. Sources: Literature