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Intellectual disability syndromic and non-syndromic

Gene: KCNC1

Green List (high evidence)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PME: 11 unrelated individuals had the same recurrent de novo variant, p.Arg320His, causing progressive myoclonic epilepsy. Onset between 6 and 14 years.

Additional individuals reported with different variants and a broad range of neurological phenotypes including ID, different types of seizures, and movement disorders.
Created: 5 Jan 2022, 2:05 a.m. | Last Modified: 5 Jan 2022, 2:05 a.m.
Panel Version: 0.4404

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Movement disorders; Epilepsy, progressive myoclonic 7 (MIM#616187)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability
  • Movement disorders
  • Epilepsy, progressive myoclonic 7 (MIM#616187)
OMIM
176258
Clinvar variants
Variants in KCNC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnc1 has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNC1 were changed from to Intellectual disability; Movement disorders; Epilepsy, progressive myoclonic 7 (MIM#616187)

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNC1 were set to

5 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNC1 was added gene: KCNC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNC1 was set to Unknown