Congenital muscular dystrophy
Gene: POMK
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review and >3 family reports for homozygous variants Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.Created: 6 Jan 2017, 9:46 a.m.
AKA SGK196- dystroglycanopahty phenotype.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
Source was removed from POMK.
Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Publications for gene POMK were changed from to 23519211; 24556084
Source NHS GMS was added to POMK.
Source London South GLH was added to POMK. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Mode of inheritance for POMK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
POMK was added to Congenital muscular dystrophypanel. Source:
POMK was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen