Pain syndromes
Gene: RAB7A

RAB7A (RAB7A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000075785
EnsemblGeneIds (GRCh37): ENSG00000075785
OMIM: 602298, Gene2Phenotype
RAB7A is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing
Created: 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 IIB
Created: 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

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary motor and sensory neuropathy IIB (HSAN1/2B)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Hereditary motor and sensory neuropathy IIB
HSAN1/2B
Charcot-Marie-Tooth disease, type 2B, 600882

OMIM

602298

Clinvar variants

Variants in RAB7A

Penetrance

Complete

Publications

Panels with this gene