Pain syndromes
Gene: RAB7A
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:35 a.m.
Comment on phenotypes: Charcot-Marie-Tooth disease, type 2B; 600882 is also known as Hereditary motor and sensory neuropathy IIB (HSAN1/2B)Created: 9 Jul 2017, 5:06 p.m.
Also known as Hereditary motor and sensory neuropathy IIB HMSN IIBCreated: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, type 2B; 600882
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB; HSAN1/2B; Charcot-Marie-Tooth disease, type 2B, 600882
Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB;HSAN1/2B; Charcot-Marie-Tooth disease, type 2B,600882
Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB (HSAN1/2B); Charcot-Marie-Tooth disease, type 2B, 600882
Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB (HSAN1/2B);Charcot-Marie-Tooth disease, type 2B; 600882
This gene has been classified as Green List (High Evidence).
RAB7A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
RAB7A was created by BRIDGE