Adult onset hereditary spastic paraplegia
Gene: KCNA2EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 10 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Phenotypes
Hereditary spastic paraplegia and ataxia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Hereditary spastic paraplegia and ataxia
- OMIM
- 176262
- Clinvar variants
- Variants in KCNA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: KCNA2 were set to 5129488
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to KCNA2.
Added New Source, Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNA2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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