KCNA2

potassium voltage-gated channel subfamily A member 2
OMIM: 176262
PanelMode of inheritanceDetails
7 panels
R-numbers: R60
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia and ataxia
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 32 OMIM:616366, developmental and epileptic encephalopathy, 32 MONDO:0014607
R-numbers: R61
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hereditary spastic paraplegia and ataxia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY Loss-of-function, EPILEPTIC ENCEPHALOPATHY Gain-of-function
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 32 OMIM:616366, developmental and epileptic encephalopathy, 32 MONDO:0014607
R-numbers: R54
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile encephalopathy 32, 616366
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPILEPTIC ENCEPHALOPATHY.