Early onset or syndromic epilepsy

Gene: KCNQ2

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD EIEE 7 and AD benign neonatal seizures. Many KCNQ2 variants reported for both of these conditions - many missense, lots shown to be de novo

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 613720; Myokymia, 121200; Seizures, benign neonatal, 121200

Publications

• 27602407
• 14534157

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Dedek et al (2003) Epilepsy Res 54: 21-27

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Dedek et al (2003) Epilepsy Res 54: 21-27

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Dedek et al (2003) Epilepsy Res 54: 21-27

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Dedek et al (2003) Epilepsy Res 54: 21-27

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: Confirmed DD gene and all reviewers agree.

Created: 20 Jan 2016, 12:28 p.m.

Comment on mode of inheritance: Monoallelic confirmed for both EBN1 and EIEE7 phenotypes on G2P and OMIM. Not on the imprinted gene list.

Created: 20 Jan 2016, 12:28 p.m.

Comment on phenotypes: Sourced from G2P and OMIM.

Created: 20 Jan 2016, 12:27 p.m.