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Early onset or syndromic epilepsy
Gene: KCNQ5

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

5 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from KCNQ5- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 1:52 p.m. | Last Modified: 13 Jan 2020, 1:52 p.m.

Panel Version: 2.0

Created: 13 Jan 2020, 1:52 p.m.
Last Modified: 13 Jan 2020, 1:52 p.m.
Panel version: 2.0

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. 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

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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, 617601

Publications

28669405

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. Have checked with Eleanor Williams (Genomic England) that two probands with different variants who have the same ethnic background is accepted as two separate pieces of evidence.
Created: 21 Nov 2018, 2:56 p.m.

Comment when marking as ready: Phenotype conformed on OMIM and Gene2Phenotype. KCNQ5 is a green gene on the Intellectual disability panel.

As stated by Zornitza Stark (Australian Genomics), the original paper (PMID: 28669405) describes 2 of 4 patients with different variants in this gene who have seizures (both are are South East Asian descent). Another paper (PMID: 30359776) describes a patient with an intragenic duplication variant in this gene who has seizures. However, as there's just not quit nough evidence I have put the Watchlist tag on.
Created: 20 Nov 2018, 9:49 a.m.

Created: 20 Nov 2018, 9:49 a.m.

Panel version: 0.943

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four patients described in the original paper, two of whom had seizures (one severe EE).
Created: 16 Aug 2018, 1:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 46, MIM#617601

Publications

28669405

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

Created: 16 Aug 2018, 1:41 a.m.

Panel version: 0.335

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal dominant 46, 617601

OMIM

607357

Clinvar variants

Variants in KCNQ5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: KCNQ5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNQ5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNQ5.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Four patients described in the

21 Nov 2018, Gel status: 3