Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: POMK
Well established gene-disease association with a broad spectrum of alpha-dystroglycanopathies, more than 10 families reported.Created: 24 Apr 2022, 7:48 a.m. | Last Modified: 24 Apr 2022, 7:48 a.m.
Panel Version: 0.13224
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
Muscular dystrophy gene however there is limited evidence associating gene with LGMD phenotype.
PMID: 24925318: 1 family reported with a clinical diagnosis of LGMD. CK levels were elevated and onset in infancy. One additional patient with a clinical diagnosis of CMD.
PMID: 29910097: 2 siblings reported with mild LGMD, childhood onset. CK levels were elevated. Primarily muscle involvement.Created: 29 Jun 2020, 5:17 a.m. | Last Modified: 29 Jun 2020, 5:17 a.m.
Panel Version: 0.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (MIM#616094)
Publications
Gene: pomk has been classified as Amber List (Moderate Evidence).
Publications for gene: POMK were set to
Gene: pomk has been classified as Amber List (Moderate Evidence).
gene: POMK was added gene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: 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