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 1.383

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

Red MME in Hereditary ataxia - adult onset


Version 2.20
Signed off v.2.13 on 6 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spinocerebellar ataxia type 43, 617018

Green MME in Hereditary neuropathy NOT PMP22 copy number


Version 1.21
Signed off v.1.2 on 27 Feb 2020

review 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, 617017