Malformations of cortical development
Gene: B4GAT1

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

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

Created: 17 Aug 2021, 2:05 p.m.
Last Modified: 17 Aug 2021, 2:05 p.m.
Panel version: 2.59

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 24 Aug 2020, 11:06 a.m.
Last Modified: 24 Aug 2020, 11:06 a.m.
Panel version: 2.7

Alice Gardham (Genomics England)

Red List (low evidence)

Only one family
Created: 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

23359570

Created: 19 Dec 2016, 2:22 p.m.

Panel version: 1.95

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Literature

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

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: B4GAT1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

17 Aug 2021, Gel status: 2