Hydrocephalus
Gene: POMGNT2
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 on list classification: Enlarged ventricles noted as a feature. Causation as per CMD panel (green there)Created: 9 May 2017, 4:10 p.m.
As per CMD panel for causation. Enlarged ventricles reported as a feature. Also, potentially of relevance to fetal presentation.Created: 9 May 2017, 1:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830
Source NHS GMS was added to POMGNT2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
POMGNT2 was added to Hydrocephaluspanel. Sources: Literature
POMGNT2 was created by helen.brittain