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Hereditary neuropathy NOT PMP22 copy number

Gene: MORC2

Green List (high evidence)

MORC2 (MORC family CW-type zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000133422
EnsemblGeneIds (GRCh37): ENSG00000133422
OMIM: 616661, Gene2Phenotype
MORC2 is in 9 panels

4 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Recent findings in Bristol as result of 100KGP including recurring and novel variants
Created: 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)

I don't know

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)

Green List (high evidence)

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
  • Literature
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Mode of Pathogenicity
FALSE
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: MORC2 was added gene: MORC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Literature,South West GLH Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z Mode of pathogenicity for gene: MORC2 was set to FALSE