Hydrocephalus
Gene: B3GLCTEnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causation, hydrocephalus a reported feature.Created: 4 May 2017, 8:41 a.m.
>4 cases. Recurrent c.660 + 1G > A mutation seen amongst others (inc splice site and insertion). Multi-system phenotype and hydrocephalus a recognized feature in some.Created: 27 Apr 2017, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome 261540
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Peters-plus syndrome, OMIM:261540
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Skeletal dysplasia
- Clefting
- Ocular coloboma
- Structural eye disease
- Likely inborn error of metabolism
- Corneal abnormalities
- Hydrocephalus
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome 261540 to Peters-plus syndrome, OMIM:261540
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to B3GLCT.
Changed Gene Name
GEL ()B3GALTL was changed to B3GLCT
Removed Tag, Removed Tag
GEL ()new-gene-name was removed from B3GALTL. Panel: Hydrocephalus b3glct was removed from B3GALTL. Panel: Hydrocephalus
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B3GALTL were set to 18798333;16909395
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)B3GALTL was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)B3GALTL was created by helen.brittain