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DDG2P

Gene: KDM4B

Green List (high evidence)

KDM4B (lysine demethylase 4B)
EnsemblGeneIds (GRCh38): ENSG00000127663
EnsemblGeneIds (GRCh37): ENSG00000127663
OMIM: 609765, Gene2Phenotype
KDM4B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease KDM4B-related Developmental Disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:33232677).
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
KDM4B-related Developmental Disorder

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KDM4B-related Developmental Disorder
OMIM
609765
Clinvar variants
Variants in KDM4B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KDM4B was added gene: KDM4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM4B were set to 33232677 Phenotypes for gene: KDM4B were set to KDM4B-related Developmental Disorder