Structural eye disease
Gene: B3GLCTEnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
five families reported, see B3GALT1Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome; 261540
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). five families reported, see B3GALT1Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome 261540
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Peters-plus syndrome 261540
- Eye Disorders
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Ocular coloboma
- Structural eye disease
- Corneal abnormalities
- Intellectual disability
- Fetal anomalies
- Hydrocephalus
- Likely inborn error of metabolism
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to B3GLCT. Source Expert Review Green was added to B3GLCT. Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peters-plus syndrome 261540 for gene: B3GLCT Publications for gene B3GLCT were changed from to 19796186; 16909395; 18798333 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: B3GLCT was added gene: B3GLCT was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: B3GLCT was set to Phenotypes for gene: B3GLCT were set to Eye Disorders