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  3. KDM4B
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Fetal anomalies

Gene: KDM4B

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green in panels on UK & Aus panelapp not reviewed for FA. PMID: 33232677 9 individuals 7 de novo, 2 inherited (1 parent with similar phenotype, other with LD). MRI findings in 4 1xhydrocephalus, 2x complete/partial ACC, 2xpolymicrogyria, 1x cranial fossa meningocele, cystic malformations some other findings as well, Mouse model as well. PMID: 38270710 fetus case but not to be trusted as variant is incorrect (from Sanger) and splice site is intact. Western blot but given the other results are incorrect I do not trust this.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 65, OMIM:619320

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 65, OMIM:619320
OMIM
609765
Clinvar variants
Variants in KDM4B
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder, autosomal dominant 65, OMIM:619320 for gene: KDM4B

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: KDM4B was added gene: KDM4B was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted