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Newborns main panel

Gene: KCNQ2

Amber List (moderate evidence)
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 24 May 2024, 9:46 a.m. | Last Modified: 24 May 2024, 9:46 a.m.
Panel Version: 0.459
Created: 24 May 2024, 9:46 a.m.
Last Modified: 24 May 2024, 9:46 a.m.
Panel version: 0.459

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green.
Created: 27 Feb 2024, 11:47 a.m. | Last Modified: 27 Feb 2024, 11:47 a.m.
Panel Version: 0.451
Created: 27 Feb 2024, 11:47 a.m.
Last Modified: 27 Feb 2024, 11:47 a.m.
Panel version: 0.451

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN). We would not use LOF algorithm because we would be unsure of phenotype in novel variants. Also would not want to see variant associated with mild phenotype.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:50 a.m.
Panel Version: 0.147
PMID: 23621294 - 10 cases PMID: 30771507 - 84 cases PMID: 36932231 - evidence for LOF PMID: 36849527 - evidence for DN
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
I believe it is both LOF and DN (PMID: 23621294). But clinical team says LOF so would not affect pipeline anyway, but just asking to note MOP. -> DB: Yes, added DN to MOP in spreadsheet.
Created: 17 May 2023, 1:46 p.m. | Last Modified: 17 May 2023, 1:46 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:46 p.m.
Last Modified: 7 Jul 2023, 9:50 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Early infantile epileptic encephalopathy-7
Tags
internal_inclusion_list_only
OMIM
602235
Clinvar variants
Variants in KCNQ2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kcnq2 has been classified as Amber List (Moderate Evidence).

27 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

27 Feb 2024, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: KCNQ2.

19 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: kcnq2 has been classified as Amber List (Moderate Evidence).

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Early infantile epileptic encephalopathy-7 for gene: KCNQ2

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: KCNQ2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: KCNQ2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to KCNQ2. Mode of pathogenicity for gene KCNQ2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Early infantile epileptic encephalopathy-7 for gene: KCNQ2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KCNQ2. Added phenotypes Early infantile epileptic encephalopathy-7 for gene: KCNQ2 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: KCNQ2 was added gene: KCNQ2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ2 were set to Early infantile epileptic encephalopathy-7