Hereditary ataxia with onset in adulthood
Gene: MORC2

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

More appropriate for CMT panel. However there is a report of Spinal muscular atrophy like disorder with neuropathy, cerebellar atrophy and diaphragmatic paralysis in HGMD with an additional case report and some functional work which would be appropriate for an SMA/ congenital muscle / hypotonic baby panel. None of the phenotypes listed involve predominantly ataxia.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Downgraded rating from Green to Amber, Green gene for childhood onset. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.

Panel Version: 1.188

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.188

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Good evidence for missense variants in CMT (no ataxia). However, same Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. Cautiously Green for this panel
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axonal type CMT disease type 2Z, 616688

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
London North GLH
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688

OMIM

616661

Clinvar variants

Variants in MORC2

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

3 Feb 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MORC2 were changed from Axonal type CMT disease type 2Z, 616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688

1 Aug 2019, Gel status: 2