Hereditary Neuropathy_CMT - isolated
Gene: MPZEnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpz has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MPZ were set to
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
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