Hydrocephalus
Gene: B3GALNT2
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 of causation. Hydrocephalus a reported feature.Created: 4 May 2017, 8:39 a.m.
Six patients in above PMID with mutations (truncating, plus missense). Phenotype a/w hydrocephalus, among other brain malformations.Created: 27 Apr 2017, 12:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Publications
Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Source NHS GMS was added to B3GALNT2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Publications for B3GALNT2 were set to 23453667
This gene has been classified as Green List (High Evidence).
B3GALNT2 was added to Hydrocephaluspanel. Sources: Other
B3GALNT2 was created by helen.brittain