Malformations of cortical development

Gene: B4GAT1

Red List (low evidence)

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 9 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
OMIM
605517
Clinvar variants
Variants in B4GAT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

B4GAT1 was added to Malformations of cortical developmentpanel. Sources: Literature

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

B4GAT1 was created by agardham