Hereditary Spastic Paraplegia - adult onset
Gene: KCNA2

KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Two families and two de novo cases with HSP
Created: 19 Apr 2020, 10:48 a.m. | Last Modified: 19 Apr 2020, 10:48 a.m.

Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 10:48 a.m.
Last Modified: 19 Apr 2020, 10:48 a.m.
Panel version: 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Hereditary spastic paraplegia and ataxia

OMIM

176262

Clinvar variants

Variants in KCNA2

Penetrance

None

Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcna2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNA2 was added gene: KCNA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA2 were set to Hereditary spastic paraplegia and ataxia

Hereditary Spastic Paraplegia - adult onset Gene: KCNA2