Hydrocephalus
Gene: B3GNT2
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 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: Watchlist in view of two reported families to date.Created: 4 May 2017, 8:46 a.m.
Comment on list classification: Only two families to date therefore insufficient evidence. Tagged as watchlist.Created: 4 May 2017, 8:45 a.m.
Only two families to date, no clear functional work. Watchlist & amber at present. Previously known as B3GNT1Created: 27 Apr 2017, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
Publications
Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120
Source NHS GMS was added to B3GNT2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
B3GNT2 was added to Hydrocephaluspanel. Sources: Other
B3GNT2 was created by helen.brittain