This Panel is marked as Retired
Recurrent episodic apnoea
Gene: KCNQ3
KCNQ3 (potassium voltage-gated channel subfamily Q member 3)
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000184156
EnsemblGeneIds (GRCh37): ENSG00000184156
OMIM: 602232, Gene2Phenotype
KCNQ3 is in 10 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Red 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 Seizures, benign neonatal, 2 (OMIM:121201) and as definitive Gen2Phen gene for KCNQ3 syndrome. PMID: 27888506 reports the occurance of apnea associated with KCNQ3 c.923 G>C, p.Trp308Ser.Created: 22 Dec 2022, 1:16 p.m. | Last Modified: 22 Dec 2022, 1:16 p.m.
Panel Version: 0.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Seizures, benign neonatal, 2, OMIM:121201; seizures, benign familial neonatal, 2, MONDO:0007366
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 list
- OMIM
- 602232
- Clinvar variants
- Variants in KCNQ3
- 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 or syndromic epilepsy
- DDG2P
- Intellectual disability
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
22 Dec 2022, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KCNQ3 were set to
22 Dec 2022, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: KCNQ3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
21 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KCNQ3 was added gene: KCNQ3 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: KCNQ3 was set to