Muscular dystrophy and myopathy_Paediatric
Gene: POMK
Well established gene-disease association with a broad spectrum of alpha-dystroglycanopathies, more than 10 families reported.Created: 24 Apr 2022, 7:49 a.m. | Last Modified: 24 Apr 2022, 7:49 a.m.
Panel Version: 0.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Publications
Gene: pomk has been classified as Green List (High Evidence).
Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Publications for gene: POMK were set to
Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: POMK was added gene: POMK was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMK was set to Unknown