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Intellectual disability syndromic and non-syndromic

Gene: KDM4B

Green List (high evidence)

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

3 reviews

Sarah Pantaleo (Victorian Clinical Genetics Services)

A single patient found to be biallelic for a KDM4B frameshift variant, NM_015015.3:c.1384_1394delinsGGG, p.(Leu462Glyfs*43). Patient female and presented with developmental and language delays, and a hypotonic and characteristic face. Patient's mother heterozygous for the variant and patient's phenotype more obvious.
Created: 3 Aug 2023, 2:20 a.m. | Last Modified: 3 Aug 2023, 2:20 a.m.
Panel Version: 0.5310

Phenotypes
Intellectual developmental disorder, autosomal dominant 65, MIM#619320

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 65, MIM# 619320

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Created: 7 Dec 2020, 4:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay, intellectual disability and neuroanatomical defects

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 65, MIM# 619320
  • Global developmental delay, intellectual disability and neuroanatomical defects
OMIM
609765
Clinvar variants
Variants in KDM4B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm4b has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm4b has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 0

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

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: KDM4B was added gene: KDM4B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM4B were set to PMID: 33232677 Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects Review for gene: KDM4B was set to GREEN