This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: KCNA1
KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_Magnesium v38.1.0
- Expert Review Green
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Panels with this gene
-
- Renal tubulopathies
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary neuropathy
- Familial Meniere Disease
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KCNA1 was added gene: KCNA1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0 Mode of inheritance for gene: KCNA1 was set to Unknown