Adult onset neurodegenerative disorder
Gene: MORC2

MORC2 (MORC family CW-type zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000133422
EnsemblGeneIds (GRCh37): ENSG00000133422
OMIM: 616661, Gene2Phenotype
MORC2 is in 10 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

Causes CMT2Z. Presents with prominent SMA-like proximal and distal weakness in adults, mimicking PMA. Needs inclusion in R460.1 to avoid R78 reanalysis.
Sources: Expert Review, Literature
Created: 22 May 2026, 1:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2026, 1:46 p.m.

Panel version: 9.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

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

OMIM

616661

Clinvar variants

Variants in MORC2

Penetrance

Complete

Publications

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

22 May 2026, Gel status: 0

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

Oliver Ziff (University College London)

gene: MORC2 was added gene: MORC2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 26497905; 26659848 Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Penetrance for gene: MORC2 were set to Complete Mode of pathogenicity for gene: MORC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MORC2 was set to GREEN gene: MORC2 was marked as current diagnostic

Adult onset neurodegenerative disorder Gene: MORC2