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DDG2P

Gene: KCND2

Green List (high evidence)
KCND2 (potassium voltage-gated channel subfamily D member 2)
EnsemblGeneIds (GRCh38): ENSG00000184408
EnsemblGeneIds (GRCh37): ENSG00000184408
OMIM: 605410, Gene2Phenotype
KCND2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCND2-related neurodevelopmental disorder with or without seizures are moderate, monoallelic_autosomal and undetermined (PMIDs: 24501278, 34245260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03544.
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 KCND2-related neurodevelopmental disorder with or without seizures is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34245260;24501278).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
MONDO:1040003; KCND2-related neurodevelopmental disorder with or without seizures

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCND2-related neurodevelopmental disorder with or without seizures
Tags
de novo gene-checked
OMIM
605410
Clinvar variants
Variants in KCND2
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: KCND2 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: KCND2.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: KCND2.

26 Sep 2024, 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: KCND2 was added gene: KCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCND2 were set to 34245260; 24501278 Phenotypes for gene: KCND2 were set to KCND2-related neurodevelopmental disorder with or without seizures Mode of pathogenicity for gene: KCND2 was set to Other