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
Three unrelated cases reported to date; sufficient for causation. Hydrocephalus is a reported feature in the neurological phenotype.
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, 12
Source NHS GMS was added to POMK.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
POMK was added to Hydrocephaluspanel. Source: Expert Review Green
POMK was created by helen.brittain
POMK was added to Hydrocephaluspanel. Sources: Literature