Congenital muscular dystrophy
Gene: B4GAT1
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
PMID: 23359570 and PMID 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1Created: 29 Apr 2019, 3:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green after internal discussion - two families reported in seperate publications.Created: 27 Jan 2017, 5:15 p.m.
Only one family described with this phenotypeCreated: 25 Jan 2017, 3:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13; 615287
Publications
only 2 reported families but good functional data.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Source was removed from B4GAT1.
Phenotypes for gene: B4GAT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Publications for gene B4GAT1 were changed from 23359570; 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1 to 23877401; 23359570
Source NHS GMS was added to B4GAT1.
Source London South GLH was added to B4GAT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for B4GAT1 were set to 23359570; 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1
Publications for B4GAT1 were set to 23359570; 23877401
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for B4GAT1 were set to 23359570
Mode of inheritance for B4GAT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
B4GAT1 was added to Congenital muscular dystrophypanel. Source:
B4GAT1 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen