Hereditary neuropathy
Gene: MORC2
Recent findings in Bristol as result of 100KGP including recurring and novel variantsCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
axonal Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Comment on list classification: Discussed internally with clinical team and approved to promote to green.Created: 31 Mar 2017, 10:37 p.m.
PMID: 26497905 - missense variant identified in affected members of a large family, plus the same change was oberserved de novo in an unrelated patient. A second de novo missense variant was identifiied in a third family. The variants are in conserved domains of the protein. PMID: 26659848 - a further 4 families reported ( variant R190W is the same as R252W described differently by the two publications). To summarise, from these publications there are three different variants described, in 7 families.Created: 15 Mar 2017, 12:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
axonal Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, axonal, type 2Z 616688
Publications
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease for gene: MORC2
Source South West GLH was added to MORC2.
Source NHS GMS was added to MORC2.
Source London North GLH was added to MORC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MORC2 was created by ellenmcdonagh
MORC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Literature