Hereditary neuropathy
Gene: KIF5A
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 4 May 2016, 11:52 a.m.
Source NHS GMS was added to KIF5A.
Source London North GLH was added to KIF5A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for KIF5A were set to Hereditary Neuropathies; Spastic paraplegia 10, autosomal dominant
Mode of inheritance for KIF5A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
KIF5A was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory