Autism
Gene: KDM5B

KDM5B (lysine demethylase 5B)
EnsemblGeneIds (GRCh38): ENSG00000117139
EnsemblGeneIds (GRCh37): ENSG00000117139
OMIM: 605393, Gene2Phenotype
KDM5B is in 5 panels

2 reviews

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), KDM5B-related; Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)

Created: 24 Oct 2023, 10:29 p.m.
Last Modified: 24 Oct 2023, 10:29 p.m.
Panel version: 0.193

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono-allelic and bi-allelic variants have been reported in association with ID, however bi-allelic variants lead to a more severe syndromic ID, and are less pertinent to this panel.

9 individuals reported for the mono-allelic disorder, which typically manifests as ID/ASD. De novo PTCs are commonly reported, some also inherited from unaffected/mildly affected parents, suggestive of reduced penetrance.
Created: 16 Mar 2021, 9:59 p.m. | Last Modified: 16 Mar 2021, 9:59 p.m.

Panel Version: 0.134

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability and/or autism, autosomal dominant

Publications

Created: 16 Mar 2021, 9:59 p.m.
Last Modified: 16 Mar 2021, 9:59 p.m.
Panel version: 0.134

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant
Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)

OMIM

605393

Clinvar variants

Variants in KDM5B

Penetrance

None

Publications

Panels with this gene