This Panel is marked as Retired
Recurrent episodic apnoea
Gene: KCNQ2
KCNQ2 (potassium voltage-gated channel subfamily Q member 2)
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000075043
EnsemblGeneIds (GRCh37): ENSG00000075043
OMIM: 602235, Gene2Phenotype
KCNQ2 is in 12 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least ten variants have been reported.Created: 22 Dec 2022, 11:42 a.m. | Last Modified: 22 Dec 2022, 11:42 a.m.
Panel Version: 0.11
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myokymia, OMIM:121200
- Seizures, benign neonatal, 1, OMIM:121200
- seizures, benign familial neonatal, 1, MONDO:0007365
- OMIM
- 602235
- Clinvar variants
- Variants in KCNQ2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
22 Dec 2022, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KCNQ2 were set to
22 Dec 2022, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: kcnq2 has been classified as Green List (High Evidence).
22 Dec 2022, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
22 Dec 2022, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KCNQ2 were changed from to Myokymia, OMIM:121200; Seizures, benign neonatal, 1, OMIM:121200; seizures, benign familial neonatal, 1, MONDO:0007365
21 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KCNQ2 was added gene: KCNQ2 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: KCNQ2 was set to