Hereditary Neuropathy_CMT - isolated

Gene: MPZ

Green List (high evidence)

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in MPZ are associated with the autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B; 118200), which is characterized by progressive slowing of nerve conduction and hypertrophy of Schwann cells. Variants in MPZ can also produce the more severe polyneuropathies, Dejerine-Sottas syndrome (DSS; 145900) and congenital hypomyelinating neuropathy-2 (CHN2; 618184), as well as several types of axonal CMT2.

Well established gene-disease association, most associations are for mono-allelic variants, but several families with bi-allelic variants also reported.
Created: 8 May 2021, 3:22 a.m. | Last Modified: 8 May 2021, 3:22 a.m.
Panel Version: 0.128

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate D, 60779
  • Neuropathy, congenital hypomyelinating, 605253
  • Charcot Marie Tooth disease, type 2J, 607736
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2I, 607677
  • HMSN
OMIM
159440
Clinvar variants
Variants in MPZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPZ were changed from Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN

8 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPZ were set to

8 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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: MPZ was added gene: MPZ was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN