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  3. KCNB2
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DDG2P

Gene: KCNB2

Green List (high evidence)
KCNB2 (potassium voltage-gated channel subfamily B member 2)
EnsemblGeneIds (GRCh38): ENSG00000182674
EnsemblGeneIds (GRCh37): ENSG00000182674
OMIM: 607738, Gene2Phenotype
KCNB2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNB2-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:38503299). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03788.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
KCNB2-related neurodevelopmental disorder

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCNB2-related neurodevelopmental disorder
OMIM
607738
Clinvar variants
Variants in KCNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNB2 was added gene: KCNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB2 were set to 38503299 Phenotypes for gene: KCNB2 were set to KCNB2-related neurodevelopmental disorder