Childhood 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, 5:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
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, 4:54 p.m.
Phenotypes
hereditary spastic paraplegia and ataxia
Publications for gene: KCNA2 were set to
Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Yorkshire and North East GLH was added to KCNA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: KCNA2 were changed from to hereditary spastic paraplegia and ataxia
Gene: kcna2 has been classified as Green List (High Evidence).
Source NHS GMS was added to KCNA2.
gene: KCNA2 was added gene: KCNA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to