RAB7A

RAB7A, member RAS oncogene family
OMIM: 602298, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RAB7A in Imprinted Genes


Version 0.62

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature

Green RAB7A in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hereditary motor and sensory neuropathy IIB
  • HSAN1/2B
  • Charcot-Marie-Tooth disease, type 2B, 600882

Red RAB7A in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary motor and sensory neuropathy IIB
  • HSAN1/2B
  • Charcot-Marie-Tooth disease, type 2B, 600882

Green RAB7A in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, 600882

Green RAB7A in Hereditary neuropathy NOT PMP22 copy number


Version 1.19
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, 600882

Green RAB7A in Severe Paediatric Disorders


Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, 600882