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Genetic epilepsy syndromes

Gene: KCNQ3

Green List (high evidence)

KCNQ3 (potassium voltage-gated channel subfamily Q member 3)
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 12 panels

7 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Amy McTague (UCL Institute of Child Health)

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

Natalie Trump (NHS - Great Ormond Street Hospital)

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

Manju Kurian (UCL-Institute of Child Health)

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

Richard Scott (North Thames GMC/UCL)

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

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • Seizures, benign neonatal, type 2
OMIM
602232
Clinvar variants
Variants in KCNQ3
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNQ3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNQ3.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCNQ3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KCNQ3. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

KCNQ3 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

KCNQ3 was created by Sarah Leigh