This Panel is marked as Retired
Epilepsy Plus
Gene: KCNMA1
KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Generalized Epilepsy and Paroxysmal Dyskinesia
- OMIM
- 600150
- Clinvar variants
- Variants in KCNMA1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KCNMA1 was added to Epilepsy Pluspanel. Source: Expert
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KCNMA1 was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KCNMA1 was created by ellenmcdonagh