Ocular coloboma

Gene: B3GLCT

Green List (high evidence)

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 17 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

B3GLCT is associated with a phenotype in OMIM. Coloboma occasionally seen in Peters Plus syndrome.
Sources: Expert Review
Created: 15 Apr 2019, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Peters-plus syndrome, 261540


History Filter Activity

15 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: b3glct has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: B3GLCT was added gene: B3GLCT was added to Ocular coloboma. Sources: Expert Review Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 16909395 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 Review for gene: B3GLCT was set to GREEN