Hereditary Neuropathy_CMT - isolated
Gene: HSPB1
Multiple families reported, functional data. Different patterns of neuropathy described.Created: 4 May 2021, 5:59 a.m. | Last Modified: 4 May 2021, 5:59 a.m.
Panel Version: 0.106
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2F, MIM# 606595; Neuronopathy, distal hereditary motor, type IIB, MIM# 608634
Publications
Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: hspb1 has been classified as Green List (High Evidence).
Phenotypes for gene: HSPB1 were changed from Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634 to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080
Publications for gene: HSPB1 were set to
gene: HSPB1 was added gene: HSPB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634