AKA SGK196- dystroglycanopahty phenotype.
Created: 19 Dec 2016, 11:47 a.m.
?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
Mode of inheritance for POMK was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
POMK was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,
POMK was created by ellenmcdonagh