Hydrocephalus
Gene: POMT2
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 and phenotype includes ventricular dilatation commonly.Created: 4 May 2017, 10:18 a.m.
Several families described, mutations include nonsense, splice and missense. Ventricular dilatation (among other brain malformations) commonly described.Created: 4 May 2017, 10:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
Publications
Source NHS GMS was added to POMT2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
Publications for POMT2 were set to 15894594; 16701995; 17878207
This gene has been classified as Green List (High Evidence).
POMT2 was added to Hydrocephaluspanel. Sources: Emory Genetics Laboratory
POMT2 was created by oniblock