Arthrogryposis
Gene: B4GAT1

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 8 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Arthrogryposis not reported
Created: 22 Mar 2023, 10:27 p.m. | Last Modified: 22 Mar 2023, 10:27 p.m.

Panel Version: 0.360

Created: 22 Mar 2023, 10:27 p.m.
Last Modified: 22 Mar 2023, 10:27 p.m.
Panel version: 0.360

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and two animal models.
Created: 21 Apr 2020, 7:17 a.m. | Last Modified: 21 Apr 2020, 7:33 a.m.

Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287

Publications

Created: 21 Apr 2020, 7:16 a.m.
Last Modified: 21 Apr 2020, 7:33 a.m.
Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287

OMIM

605517

Clinvar variants

Variants in B4GAT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: b4gat1 has been classified as Red List (Low Evidence).

21 Apr 2020, Gel status: 3