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  3. KCNQ2
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Dystonia - complex

Gene: KCNQ2

Amber List (moderate evidence)
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 cases have been reported with dystonic features as part of a complex neurological phenotype.
Created: 5 Dec 2024, 3:26 a.m. | Last Modified: 5 Dec 2024, 3:26 a.m.
Panel Version: 0.240
Cannot find evidence that dystonia is a prominent feature of the condition. Single case reported with dystonic features from 2003
Sources: Expert list
Created: 6 Apr 2020, 12:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 7 MIM#613720

Publications

Created: 6 Apr 2020, 12:57 a.m.

Panel version: 0.240

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 7 MIM#613720
OMIM
602235
Clinvar variants
Variants in KCNQ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: KCNQ2 were set to 12742592

5 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnq2 has been classified as Amber List (Moderate Evidence).

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq2 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNQ2 was added gene: KCNQ2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ2 were set to 12742592 Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7 MIM#613720 Review for gene: KCNQ2 was set to RED