Hereditary Neuropathy_CMT - isolated

Gene: VCP

Green List (high evidence)

Third family reported with phenotypic variability between the proband, his brother, and father.

- The clinical diagnosis of CMT2 was based on the observations of distal amyotrophy and mild sensory abnormalities, and electrophysiological evidence of chronic progressive axonopathy in the proband.
- The proband's brother had fewer clinical signs of CMT2 compared to the proband and his father, with mild hand weakness and length-dependent sensory deficits with no lower extremity weakness.
- The findings in the father reflected a novel phenotypic partial synthesis of ALS-like (i.e., UMN and LMN) in conjunction with CMT2-like (motor and sensory) phenomena.

Created: 9 Aug 2021, 8:32 a.m. | Last Modified: 9 Aug 2021, 8:32 a.m.

Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 2Y (MIM#616687), AD

Publications

• PMID: 32165109

Mode of pathogenicity
Other

I don't know

Two families reported only.

Created: 2 Apr 2020, 9:21 a.m. | Last Modified: 2 Apr 2020, 9:21 a.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 2Y, MIM# 616687

Publications

• 25125609
• 25878907