Adult onset neurodegenerative disorder
Gene: MME

MME (membrane metalloendopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000196549
EnsemblGeneIds (GRCh37): ENSG00000196549
OMIM: 120520, Gene2Phenotype
MME is in 4 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

MME variants frequently present as a late-onset >40 years motor-predominant axonal polyneuropathy. Because the clinical presentation features progressive distal lower motor neuron weakness and wasting in adulthood, it mimics Progressive Muscular Atrophy and LMN-variant MND. Adding it to the R460.1 panel is necessary to capture these mimics upfront and prevent sequential R78 WGS reanalysis for patients on the MND diagnostic pathway.
Sources: Expert Review, Literature
Created: 22 May 2026, 1:44 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017

Publications

26924531

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, 1:44 p.m.

Panel version: 9.1

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Phenotypes

Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017

OMIM

120520

Clinvar variants

Variants in MME

Penetrance

Complete

Publications

26924531

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: MME was added gene: MME was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MME were set to 26924531 Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017 Penetrance for gene: MME were set to Complete Mode of pathogenicity for gene: MME 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: MME was set to GREEN gene: MME was marked as current diagnostic

Adult onset neurodegenerative disorder Gene: MME