Ocular coloboma
Gene: B3GLCT
B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
1 review
Ivone Leong (Genomics England Curator)
B3GLCT is associated with a phenotype in OMIM. Coloboma occasionally seen in Peters Plus syndrome.
Sources: Expert ReviewCreated: 15 Apr 2019, 11:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome, 261540
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Peters-plus syndrome, 261540
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Clefting
- Undiagnosed metabolic disorders
- Ocular coloboma
- Structural eye disease
- Corneal abnormalities
- Skeletal dysplasia
- Hydrocephalus
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
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