Pain syndromes

Gene: RAB7A

Green List (high evidence)

RAB7A (RAB7A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000075785
EnsemblGeneIds (GRCh37): ENSG00000075785
OMIM: 602298, Gene2Phenotype
RAB7A is in 5 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

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

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

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB; HSAN1/2B; Charcot-Marie-Tooth disease, type 2B, 600882

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB;HSAN1/2B; Charcot-Marie-Tooth disease, type 2B,600882

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB (HSAN1/2B); Charcot-Marie-Tooth disease, type 2B, 600882

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB7A were set to Hereditary motor and sensory neuropathy IIB (HSAN1/2B);Charcot-Marie-Tooth disease, type 2B; 600882

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

RAB7A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

RAB7A was created by BRIDGE