Clefting
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
Ellen McDonagh (Genomics England Curator)
There is a new HGNC-approved gene symbol for this gene: B3GLCT.Created: 26 May 2017, 7:50 a.m.
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PETERS-PLUS SYNDROME
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- PETERS-PLUS SYNDROME
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Ocular coloboma
- Corneal abnormalities
- Clefting
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
5 Nov 2017, Gel status: 4
Changed Gene Name
GEL ()B3GALTL was changed to B3GLCT
5 Nov 2017, Gel status: 4
Removed Tag
GEL ()new-gene-name was removed from B3GALTL. Panel: Clefting
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Changed Gene Name
Ellen McDonagh (Genomics England Curator)B3GLCT* was changed to B3GALTL
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)B3GLCT* was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)B3GLCT* was added to Cleftingpanel. Sources: Expert Review Green