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  3. KCNQ2
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Brain Channelopathies

Gene: KCNQ2

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Some affected individuals have transient benign neonatal seizures/myokymia, whereas others have DEE.
Created: 29 Dec 2020, 9:32 p.m. | Last Modified: 29 Dec 2020, 9:32 p.m.
Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myokymia, MIM# 121200; Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720

Created: 29 Dec 2020, 9:32 p.m.
Last Modified: 29 Dec 2020, 9:32 p.m.
Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myokymia, MIM# 121200
  • Seizures, benign neonatal, 1, MIM# 121200
  • Developmental and epileptic encephalopathy 7, MIM# 613720
OMIM
602235
Clinvar variants
Variants in KCNQ2
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq2 has been classified as Green List (High Evidence).

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNQ2 were changed from to Myokymia, MIM# 121200; Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720

29 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNQ2 was added gene: KCNQ2 was added to Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNQ2 was set to Unknown