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  2. Hereditary Neuropathy_CMT - isolated
  3. MME
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Hereditary Neuropathy_CMT - isolated

Gene: MME

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with both mono-allelic and bi-allelic variants in association with CMT.
Created: 7 May 2021, 10:25 a.m. | Last Modified: 7 May 2021, 10:25 a.m.
Panel Version: 0.123

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 7 May 2021, 10:25 a.m.
Last Modified: 7 May 2021, 10:25 a.m.
Panel version: 0.123

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017
  • MONDO:0014866
OMIM
120520
Clinvar variants
Variants in MME
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MME was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mme has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MME were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866

7 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MME were set to

7 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MME was added gene: MME was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MME were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017