Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: KCNQ5

Green List (high evidence)

KCNQ5 (potassium voltage-gated channel subfamily Q member 5)
EnsemblGeneIds (GRCh38): ENSG00000185760
EnsemblGeneIds (GRCh37): ENSG00000185760
OMIM: 607357, Gene2Phenotype
KCNQ5 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed Red to Green from external review comment and further review of the original publication that supports gene-disease association
Created: 31 Jul 2018, 12:24 p.m.
Comment on phenotypes: added MIM id and phenotypes from OMIM
Created: 31 Jul 2018, 12:24 p.m.
Comment on mode of inheritance: added MOI from publication
Created: 31 Jul 2018, 12:22 p.m.
Reviewing the paper again after external expert review, I agree there are 4 unrelated families to support gene-disease association and rating of this gene to Green.
Created: 31 Jul 2018, 12:18 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

According to table, all four unrelated probands reported in Lehman et al had ID, two severe, and two mild.
Created: 19 Jun 2018, 9:58 a.m.

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

Olivia Niblock (Genomics England Curator)

I don't know

2 individuals in the literature cited to have Intellectual disability with denovo variants in this gene. Both from same ethnicity - South East Asian. The other 2 individuals in this paper are cited to have Epileptic Encephalopathy.
Created: 15 Aug 2017, 2:17 p.m.

Mode of inheritance
Unknown

Phenotypes
Intellectual Disaility; Epileptic Encephalopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Mental retardation, autosomal dominant 46, 617601
  • intellectual disability
OMIM
607357
Clinvar variants
Variants in KCNQ5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KCNQ5.

31 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kcnq5 has been classified as Green List (High Evidence).

31 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KCNQ5 were set to Mental retardation, autosomal dominant 46, 617601; intellectual disability

31 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KCNQ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

15 Aug 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

KCNQ5 was created by oniblock

15 Aug 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

KCNQ5 was added to Intellectual disabilitypanel. Sources: Literature,Other