Malformations of cortical developmentGene: POMK
Comment when marking as ready: Red on muscular dystrophy panel
Created: 19 Dec 2016, 2:01 p.m.
Reported in three unrelated families. Not recognised on G2P
Created: 19 Dec 2016, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
This gene has been classified as Red List (Low Evidence).
POMK was added to Malformations of cortical developmentpanel. Sources: Literature
POMK was created by agardham