Congenital muscular dystrophy and congenital myopathy

Gene: B4GAT1

I don't know

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.

Green List (high evidence)

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 B4GAT1

Created: 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

• 23359570
• 23877401

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.

Red List (low evidence)

Only one family described with this phenotype

Created: 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

• 23359570

Green List (high evidence)

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