MME

membrane metalloendopeptidase
OMIM: 120520, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MME in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Other
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017
Tags
  • adult-onset
Red MME in Hereditary ataxia with onset in adulthood


Version 4.34
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Spinocerebellar ataxia 43, OMIM:617018
Green MME in Hereditary neuropathy or pain disorder


Version 3.94
Latest signed off version: v3.24 (15 May 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017
Tags
  • adult-onset