Paroxysmal central nervous system disorders
Gene: RAB7A
Comment on list classification: Demoted RAB7A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:21 p.m. | Last Modified: 9 Sep 2019, 3:21 p.m.
Panel Version: 0.63
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2B, 600882
Gene: rab7a has been classified as Red List (Low Evidence).
Gene: rab7a has been classified as Red List (Low Evidence).
Source NHS GMS was added to RAB7A.
Source London North GLH was added to RAB7A.
Source Wessex and West Midlands GLH was added to RAB7A.
Added phenotypes Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B for gene: RAB7A
gene: RAB7A was added gene: RAB7A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB7A were set to 15455439; 12545426; 17060578 Phenotypes for gene: RAB7A were set to Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B