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Fetal anomalies
Gene: KCNQ5

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.

Clinical presentation is typically post-natal.
Created: 2 May 2021, 12:52 a.m. | Last Modified: 11 Feb 2022, 9:10 a.m.

Panel Version: 0.3313

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 46, MIM# 617601

Publications

Created: 2 May 2021, 12:52 a.m.
Last Modified: 11 Feb 2022, 9:10 a.m.
Panel version: 0.3313

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Mental retardation, autosomal dominant 46, MIM# 617601

OMIM

Clinvar variants

Variants in KCNQ5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq5 has been classified as Red List (Low Evidence).

11 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNQ5 were changed from Intellectual Disability with or without Epileptic Encephalopathy to Mental retardation, autosomal dominant 46, MIM# 617601

11 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNQ5 were set to

11 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNQ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq5 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNQ5 was added gene: KCNQ5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy