Hydrocephalus
Gene: B4GAT1The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.
Panel Version: 2.127
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. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review.Created: 17 Aug 2021, 2:05 p.m. | Last Modified: 17 Aug 2021, 2:06 p.m.
Panel Version: 2.116
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. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: B4GAT1 was added gene: B4GAT1 was added to Hydrocephalus. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: B4GAT1. Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23359570; 23877401; 23217742 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Penetrance for gene: B4GAT1 were set to Complete