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Fetal anomalies

Gene: KCNQ2

Red List (low 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

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Not antenatally detectable.

More than 3 unrelated individuals identified as part of Rett-like cohorts. Onset in early infancy, often in the neonatal period.
Created: 10 Jan 2022, 12:33 a.m. | Last Modified: 10 Jan 2022, 12:33 a.m.
Panel Version: 0.1933

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Developmental and epileptic encephalopathy 7 (MIM#613720)
  • Myokymia (MIM#121200)
  • Seizures, benign neonatal, 1 (MIM#121200)
OMIM
602235
Clinvar variants
Variants in KCNQ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jan 2022, 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).

12 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNQ2 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1 to Developmental and epileptic encephalopathy 7 (MIM#613720); Myokymia (MIM#121200); Seizures, benign neonatal, 1 (MIM#121200)

12 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNQ2 were set to 30712880

12 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNQ2 was added gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ2 were set to 30712880 Phenotypes for gene: KCNQ2 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1