1. Panels
  2. Recurrent episodic apnoea
  3. KCNT1
STRs in panel
Prev Next
Regions in panel
Prev Next

Recurrent episodic apnoea

Gene: KCNT1

Green List (high evidence)
KCNT1 (potassium sodium-activated channel subfamily T member 1)
EnsemblGeneIds (GRCh38): ENSG00000107147
EnsemblGeneIds (GRCh37): ENSG00000107147
OMIM: 608167, Gene2Phenotype
KCNT1 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
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)

Green List (high evidence)

Associated with Developmental and epileptic encephalopathy 14 (OMIM:614959) and as definitive Gen2Phen gene for the same condition. At least six variants have been reported for OMIM:614959 and there are at least three reports of apnea (PMID: 24029078;7555952;15816952).
Created: 22 Dec 2022, 6:34 p.m. | Last Modified: 22 Dec 2022, 6:34 p.m.
Panel Version: 0.36
Comment on phenotypes: Developmental and epileptic encephalopathy 14, OMIM:614959 is also referred to as malignant migrating partial seizures of infancy' (MMPSI) in the literature and by Gen2Phen.
Created: 22 Dec 2022, 6:22 p.m. | Last Modified: 22 Dec 2022, 6:22 p.m.
Panel Version: 0.34
Created: 22 Dec 2022, 6:22 p.m.
Last Modified: 22 Dec 2022, 6:22 p.m.
Panel version: 0.36

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
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
  • Developmental and epileptic encephalopathy 14, OMIM:614959
  • developmental and epileptic encephalopathy, 14, MONDO:0013989
OMIM
608167
Clinvar variants
Variants in KCNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: kcnt1 has been classified as Green List (High Evidence).

22 Dec 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KCNT1 were set to

22 Dec 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KCNT1 were changed from Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989 to Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989

22 Dec 2022, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: KCNT1 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: KCNT1 were changed from to Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: KCNT1 was added gene: KCNT1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: KCNT1 was set to