Anophthalmia or microphthalmia
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
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Need to update to official HGNC symbol B3GLCT. added new-gene-name tagCreated: 18 Jan 2017, 4:35 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- Complete
- 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
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()B3GALTL was changed to B3GLCT
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from B3GALTL. Panel: Anophthalmia/microphthamia
28 Apr 2015, Gel status: 1
Added New Source
GEL ()B3GALTL was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory