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DDG2P

Gene: KCNK4

Red List (low evidence)
KCNK4 (potassium two pore domain channel subfamily K member 4)
EnsemblGeneIds (GRCh38): ENSG00000182450
EnsemblGeneIds (GRCh37): ENSG00000182450
OMIM: 605720, Gene2Phenotype
KCNK4 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30290154).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).

The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 7 Oct 2023, 8:01 a.m.
Panel Version: 3.49

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

Phenotypes
KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:01 a.m.
Panel version: 5.43

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019.
Created: 19 Apr 2019, 2:59 p.m.
Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP).
Created: 19 Apr 2019, 2:57 p.m.
New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 19 Apr 2019, 2:56 p.m.
New gene:disorder association added to DDG2P on 08/11/2018: FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth). Original DDG2P rating for FHEIG: possible. DG2P mode of pathogenicity for FHEIG: activating.
Created: 27 Nov 2018, 10:20 a.m.
Created: 27 Nov 2018, 10:20 a.m.

Panel version: 1.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381
OMIM
605720
Clinvar variants
Variants in KCNK4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth to KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381

21 Feb 2025, Gel status: 1

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to KCNK4. Rating Changed from Green List (high evidence) to Red List (low evidence)

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: KCNK4.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KCNK4. Mode of pathogenicity for gene KCNK4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: kcnk4 has been classified as Amber List (Moderate Evidence).

19 Apr 2019, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: KCNK4.

19 Apr 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

27 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: KCNK4 was added gene: KCNK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK4 were set to 30290154 Phenotypes for gene: KCNK4 were set to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) Mode of pathogenicity for gene: KCNK4 was set to Other - please provide details in the comments