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  3. KCNQ3
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Cerebral Palsy

Gene: KCNQ3

Red List (low evidence)
KCNQ3 (potassium voltage-gated channel subfamily Q member 3)
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 9 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. No evidence for clinical overlap.
Sources: Literature
Created: 27 May 2024, 6:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Seizures, benign neonatal, 2, MIM#121201

Publications

Created: 27 May 2024, 6:23 a.m.

Panel version: 1.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Seizures, benign neonatal, 2, MIM#121201
OMIM
602232
Clinvar variants
Variants in KCNQ3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq3 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq3 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: KCNQ3 was added gene: KCNQ3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ3 were set to PMID: 38693247 Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, 2, MIM#121201 Review for gene: KCNQ3 was set to RED