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Hereditary neuropathy NOT PMP22 copy number

Gene: MME

Green List (high evidence)

MME (membrane metalloendopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000196549
EnsemblGeneIds (GRCh37): ENSG00000196549
OMIM: 120520, Gene2Phenotype
MME is in 3 panels

6 reviews

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

Green List (high evidence)

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype. Adult onset neuropathy.
Created: 6 Jul 2018, 8:36 a.m.
Comment on list classification: !0 cases in original report, unrelated with a range of LOF variants. Now further feedback on positive diagnoses. Sufficient evidence for a green rating.
Created: 6 Jul 2018, 8:36 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Comment on phenotypes: added OMIM phenotype
Created: 11 Apr 2018, 2:54 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 26991897 - 10 Japanese patients reported as homozygous for potential loss-of-function mutations, all with late-onset axonal neuropathy. PMID: 27588448 - heterozygous rare loss-of-function and missense mutations in MME identified in 19 index case subjects diagnosed with axonal polyneuropathies or neurodegenerative conditions involving the peripheral nervous system. Some of these variants had incomplete penetrance and were found a low frequency in allele frequency databases. "MME mutations segregated in an autosomal-dominant fashion with age-related incomplete penetrance and some affected individuals were isolated case subjects. Detection of MME mutations is expected to increase the diagnostic yield in late-onset polyneuropathies, and it will be tempting to explore whether substances that can elevate neprilysin activity could be a rational option for treatment."
Created: 15 Mar 2017, 12:51 p.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Further patient identified through 100,000 Genomes Cohort
Created: 19 Jan 2017, 10:52 a.m.

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

New evidence - consider adding to panel at next review.
Created: 17 Oct 2016, 2:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease

Publications

Details

Mode of Inheritance
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
OMIM
120520
Clinvar variants
Variants in MME
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: MME was added gene: MME was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Other,Expert Review Green Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MME were set to 26991897; 27588448 Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, 617017