Hereditary neuropathy
Gene: SPG11
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Source NHS GMS was added to SPG11.
Source London North GLH was added to SPG11. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for SPG11 were set to 26556829
This gene has been classified as Green List (High Evidence).
Phenotypes for SPG11 were set to Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
Mode of inheritance for SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG11 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory