Early onset or syndromic epilepsy

Gene: KCNQ3

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 benign neonatal seizures 2 (BFNS2) - onset of clonic or tonic-clonic seizures in the first few days of life, full remission within a few months of life. Ryan et al, 1991, Lewis et al, 1993 & Charlier et al, 1998 - Large 3 generation Mexican family - 14 individuals with benign neonatal epilepsy (clonic seizures) KCNQ3 missense variant - cosegregated with phenotype. Hirose et al, 2000 - Japanese family - several members had onset in first few weeks of life and dissapeared rapidly in almost all cases - het KCNQ3 missense vasriant in affecteds. Li et al, 2008 - 3 generation Chinese family - 7 had benign neonatal seizures developing at a few days old and remission soon after - het missense variant detected and segregated with the disorder. Fister et al, 213 - mother and daughter of Slovenian descent - developed focal clonic seizures early in life but seizure free not long after - same missense variant detected as that by Li et al, Seen in both affecteds.

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
Seizures, benign neonatal, 121201

Publications

• 14534157

Green List (high evidence)

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

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

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

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

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

Comment when marking as ready: A confirmed DD gene, and all reviewers agree this should be green for this panel. Missense/in frame variants in this gene cause the disorder (G2P).

Created: 20 Jan 2016, 12:32 p.m.

Comment on phenotypes: Sourced from OMIM.

Created: 20 Jan 2016, 12:31 p.m.

Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. Not on the imprinted gene list.

Created: 20 Jan 2016, 12:30 p.m.