Corneal abnormalities
Gene: B3GLCTEnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green, and more than 3 families reported for Peter-plus syndrome.Created: 20 Feb 2017, 5:21 p.m.
Chris Campbell (NHS)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome
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
- GDL Corneal Abnormalities panel
- Phenotypes
-
- Peters-plus syndrome 261540
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ocular coloboma
- Intellectual disability
- Corneal abnormalities
- Clefting
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Retinal disorders
- Likely inborn error of metabolism
- Hydrocephalus
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Anophthalmia or microphthalmia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Changed Gene Name
GEL ()B3GALTL was changed to B3GLCT
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
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 261540
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B3GALTL were set to 16909395;18798333;19796186
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B3GALTL were set to 16909395
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
Ellen McDonagh (Genomics England Curator)B3GALTL was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
Created
Ellen McDonagh (Genomics England Curator)B3GALTL was created by ellenmcdonagh