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DDG2P

Gene: KCNK3

Green List (high evidence)
KCNK3 (potassium two pore domain channel subfamily K member 3)
EnsemblGeneIds (GRCh38): ENSG00000171303
EnsemblGeneIds (GRCh37): ENSG00000171303
OMIM: 603220, Gene2Phenotype
KCNK3 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNK3-related developmental delay with sleep apnea are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 36195757). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02892.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease KCNK3-related developmental disorder (monoallelic) is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33057194).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
KCNK3-related developmental disorder (monoallelic); KCNK3-associated developmental delay with sleep apnea; KCNK3-related developmental delay with sleep apnea; MONDO:0700360

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCNK3-related developmental disorder (monoallelic)
OMIM
603220
Clinvar variants
Variants in KCNK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KCNK3 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNK3 was added gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 33057194 Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCNK3 was set to Other