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  2. Bilateral congenital or childhood onset cataracts
  3. B4GAT1
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Bilateral congenital or childhood onset cataracts

Gene: B4GAT1

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Under B3GNT1 in OMIM, for which the HGNC-approved symbol is B4GAT1. We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.
Created: 27 Jun 2016, 4:31 p.m.
Created: 27 Jun 2016, 4:31 p.m.

Panel version: 0.477

Details

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

History Filter Activity

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GAT1 was added to Cataractspanel. Sources: Other

27 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B4GAT1 was created by ellenmcdonagh