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  3. KCNQ4
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Deafness_Isolated

Gene: KCNQ4

Green List (high evidence)
KCNQ4 (potassium voltage-gated channel subfamily Q member 4)
EnsemblGeneIds (GRCh38): ENSG00000117013
EnsemblGeneIds (GRCh37): ENSG00000117013
OMIM: 603537, Gene2Phenotype
KCNQ4 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive non-syndromic hearing loss, variable onset in childhood/adolescence/early adulthood.
Created: 28 Jul 2020, 9:55 p.m. | Last Modified: 28 Jul 2020, 9:55 p.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 2A, MIM# 600101

Publications

Created: 28 Jul 2020, 9:55 p.m.
Last Modified: 28 Jul 2020, 9:55 p.m.
Panel version: 0.6

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Expert list
Created: 28 Jul 2020, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 28 Jul 2020, 11:44 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 2A, MIM# 600101
OMIM
603537
Clinvar variants
Variants in KCNQ4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq4 has been classified as Green List (High Evidence).

28 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNQ4 were set to

28 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101

28 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq4 has been classified as Green List (High Evidence).

28 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance

Lilian Downie (Victorian Clinical Genetics Services)

gene: KCNQ4 was added gene: KCNQ4 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: KCNQ4 was set to GREEN