Hereditary neuropathy or pain disorder
Gene: RAB7AEnsemblGeneIds (GRCh38): ENSG00000075785
EnsemblGeneIds (GRCh37): ENSG00000075785
OMIM: 602298, Gene2Phenotype
RAB7A is in 4 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
4 likely pathogenic or pathogenic variants in Bristol including one shown to be de novo. PMID: 26791407 - Zebrafish functional characterisation of commonly reported variantCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, type 2B, 600882
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:09 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 602298
- Clinvar variants
- Variants in RAB7A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RAB7A was added gene: RAB7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB7A were set to 26791407 Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, 600882