Hydrocephalus
Gene: B3GLCT
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
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
Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome 261540 to Peters-plus syndrome, OMIM:261540
Source NHS GMS was added to B3GLCT.
B3GALTL was changed to B3GLCT
new-gene-name was removed from B3GALTL. Panel: Hydrocephalus b3glct was removed from B3GALTL. Panel: Hydrocephalus
31.05.2017 - panel revised after internal curation and clinical review.
Publications for B3GALTL were set to 18798333;16909395
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
B3GALTL was added to Hydrocephaluspanel. Sources: Literature
B3GALTL was created by helen.brittain