Adult onset hereditary spastic paraplegia
Gene: KCNA2
Four families described with same de novo mutation including spastic ataxia phenotype. Adult and Childhood onset.Created: 9 May 2019, 5:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Publications
Phenotypes
Hereditary spastic paraplegia and ataxia
Publications
Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA2 were set to 5129488
Source Yorkshire and North East GLH was added to KCNA2.
Source Expert Review Green was added to KCNA2. Added phenotypes Hereditary spastic paraplegia and ataxia for gene: KCNA2 Publications for gene KCNA2 were changed from to 5129488 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KCNA2.
gene: KCNA2 was added gene: KCNA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to