Bilateral congenital or childhood onset cataracts
Gene: B3GLCTEnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Need to update to current official HGNC gene symbol B3GLCT. added new-gene-name tagCreated: 18 Jan 2017, 4:38 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and there are multiple reports within OMIM. Cataract is included as a phenotype within Peters-plus syndrome.Created: 28 Apr 2016, 3:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Peters-plus syndrome
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Ocular coloboma
- Corneal abnormalities
- Clefting
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Changed Gene Name
GEL ()B3GALTL was changed to B3GLCT
Removed Tag
GEL ()new-gene-name was removed from B3GALTL. Panel: Cataracts
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for B3GALTL were set to Peters-plus syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for B3GALTL was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()B3GALTL was added to Cataractspanel. Sources: UKGTN