PMP22
HGNC ↗2 article(s) in the watch · Constitutional genetics
PMP22 encodes a dosage-sensitive peripheral-myelin protein. Duplication causes Charcot-Marie-Tooth type 1A; deletion causes HNPP.
Curated publications
Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant
Hereditary demyelinating peripheral neuropathy (CMT1E / HNPP)
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease / *PMP22*-related neuropathies
Frequently asked questions
How is a PMP22-related condition inherited?+
Autosomal dominant
What is the clinical spectrum associated with PMP22?+
Sensorimotor neuropathy (CMT1A), pressure-palsy neuropathy (HNPP)
What is the management associated with PMP22?+
Rehabilitation, orthoses; avoid neurotoxic drugs; genetic counselling.
How many Geno'X publications cover the PMP22 gene?+
2 publication(s) on PMP22 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
