Genes in panel

Hereditary neuropathy

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 5 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
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z 616688
  • Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
  • axonal Charcot-Marie-Tooth disease
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MORC2.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MORC2.

29 Apr 2019, Gel status: 3

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)

31 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Mar 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MORC2 was created by ellenmcdonagh

15 Mar 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MORC2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Literature