Congenital muscular dystrophy
Gene: B4GAT1EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green after internal discussion - two families reported in seperate publications.Created: 27 Jan 2017, 5:15 p.m.
Arianna Tucci (Genomics England Curator)
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
Emma Clement (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
- OMIM
- 605517
- Clinvar variants
- Variants in B4GAT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
- Cerebellar hypoplasia
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Removed Source
Arina Puzriakova (Genomics England Curator)Source was removed from B4GAT1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to B4GAT1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to B4GAT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B4GAT1 were set to 23359570; 23877401
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B4GAT1 were set to 23359570
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for B4GAT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)B4GAT1 was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)B4GAT1 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen