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 Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Sufficient cases for causation and hydrocephalus or ventricular dilatation is a common feature
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Source NHS GMS was added to POMGNT1.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
POMGNT1 was added to Hydrocephaluspanel. Source: Expert Review Green
POMGNT1 was created by helen.brittain
POMGNT1 was added to Hydrocephaluspanel. Sources: Literature