Hereditary Neuropathy_CMT - isolated
Gene: MPZ
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
Gene: mpz has been classified as Green List (High Evidence).
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
Publications for gene: MPZ were set to
Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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