Hereditary neuropathy
Gene: MORC2EnsemblGeneIds (GRCh38): ENSG00000133422
EnsemblGeneIds (GRCh37): ENSG00000133422
OMIM: 616661, Gene2Phenotype
MORC2 is in 9 panels
4 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Literature
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
- Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
- OMIM
- 616661
- Clinvar variants
- Variants in MORC2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z 616688; Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease for gene: MORC2
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MORC2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MORC2.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MORC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MORC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)MORC2 was created by ellenmcdonagh