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  3. MME
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Ataxia - adult onset

Gene: MME

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with CMT: Multiple families reported with both mono-allelic and bi-allelic variants in association with CMT.

Association with ataxia: single family reported.
Created: 7 May 2021, 10:30 a.m. | Last Modified: 7 May 2021, 10:30 a.m.
Panel Version: 0.7543

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866; Spinocerebellar ataxia 43 MIM#617018

Publications

Created: 7 May 2021, 10:30 a.m.
Last Modified: 7 May 2021, 10:30 a.m.
Panel version: Imported from Mendeliome panel version 0.7543

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A heterozygous variant identified in 7 affected members of a single large Belgian family with spinocerebellar ataxia and neuropathy. This is the only family reported with ataxia, all other individuals with mutations in this genes have neuropathy.
Created: 17 Apr 2020, 2:42 a.m. | Last Modified: 17 Apr 2020, 2:42 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 43 MIM#617018

Publications

Created: 17 Apr 2020, 2:42 a.m.
Last Modified: 17 Apr 2020, 2:42 a.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellar ataxia type 43, 617018
OMIM
120520
Clinvar variants
Variants in MME
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MME was added gene: MME was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: MME was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MME were set to 27583304 Phenotypes for gene: MME were set to ?Spinocerebellar ataxia type 43, 617018