Congenital muscular dystrophy
Gene: DOLK
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.
Comment on list classification: Gene promoted from red to green due to expert review and >3 unrelated family reports.Created: 6 Jan 2017, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CDG Im
Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, OMIM:610768
Publications for gene DOLK were changed from 23890587; 22242004; 17273964 to 17273964; 22242004; 23890587
Source NHS GMS was added to DOLK.
Source London South GLH was added to DOLK. 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).
Publications for DOLK were set to 23890587;22242004;17273964
This gene has been classified as Green List (High Evidence).
Phenotypes for DOLK were set to Congenital disorder of glycosylation, type Im
This proposed gene was validated and added to this panel
DOLK was created by eclement
DOLK was added to Congenital muscular dystrophypanel. Sources: Expert Review