Progressive Myoclonic Epilepsy
Gene: KCNC1

KCNC1 (potassium voltage-gated channel subfamily C member 1)
EnsemblGeneIds (GRCh38): ENSG00000129159
EnsemblGeneIds (GRCh37): ENSG00000129159
OMIM: 176258, Gene2Phenotype
KCNC1 is in 4 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

11 unrelated individuals had the same recurrent de novo variant, p.Arg320His, causing progressive myoclonic epilepsy. Onset between 6 and 14 years.
Created: 5 Jan 2022, 1:27 a.m. | Last Modified: 5 Jan 2022, 1:27 a.m.

Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, progressive myoclonic 7 (MIM#616187)

Publications

25401298

Created: 5 Jan 2022, 1:27 a.m.
Last Modified: 5 Jan 2022, 1:27 a.m.
Panel version: 0.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Epilepsy, progressive myoclonic 7 616187

OMIM

176258

Clinvar variants

Variants in KCNC1

Penetrance

None

Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNC1 was added gene: KCNC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC1 were set to Epilepsy, progressive myoclonic 7 616187

Progressive Myoclonic Epilepsy Gene: KCNC1