DDG2P
Gene: KDM5B

KDM5B (lysine demethylase 5B)
EnsemblGeneIds (GRCh38): ENSG00000117139
EnsemblGeneIds (GRCh37): ENSG00000117139
OMIM: 605393, Gene2Phenotype
KDM5B is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource.

Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026.
Created: 12 Mar 2026, 12:14 p.m. | Last Modified: 12 Mar 2026, 12:14 p.m.

Panel Version: 6.426

Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource.

Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026.
Created: 12 Mar 2026, 12:14 p.m. | Last Modified: 12 Mar 2026, 12:14 p.m.

Panel Version: 6.425

The DDG2P confidence category for the disease AUTISM, OMIM:209850 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:28135719). The DDG2P confidence category for the disease Autism is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 29276005;28720891;30409806;24307393).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.424

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Changed Mode of inheritance from 'monoallelic' to 'BOTH monoallelic and biallelic' to match the September 2019 DDG2P update.
Created: 3 Oct 2019, 12:20 p.m. | Last Modified: 3 Oct 2019, 12:20 p.m.

Panel Version: 1.123

Comment on list classification: Updated rating of KDM5B from Red to Amber: A DDG2P update (September 2019) has changed the rating from 'possible' to 'probable'. The Mode of inheritance was also changed in the September 2019 update from monoallelic to both monoallelic and biallelic.
Created: 3 Oct 2019, 12:19 p.m. | Last Modified: 3 Oct 2019, 12:19 p.m.

Panel Version: 1.122

Original DDG2P rating for Autism: possible. DDG2P Mutation consequence: loss of function. Mode of inheritance: monoallelic.
Created: 19 Nov 2018, 11:30 a.m. | Last Modified: 3 Oct 2019, 12:17 p.m.

Panel Version: 1.121

Created: 19 Nov 2018, 11:30 a.m.
Last Modified: 3 Oct 2019, 12:17 p.m.
Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

KDM5B-related neurodevelopmental disorder (biallelic)
Intellectual developmental disorder, autosomal recessive 65, OMIM:618109
intellectual disability, autosomal recessive, MONDO:0020850
KDM5B-related neurodevelopmental disorder (monoallelic)
neurodevelopmental disorder, MONDO:0700092

OMIM

605393

Clinvar variants

Variants in KDM5B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KDM5B were changed from KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092 to KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092

12 Mar 2026, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KDM5B were changed from Autism to KDM5B-related neurodevelopmental disorder (biallelic); Intellectual developmental disorder, autosomal recessive 65, OMIM:618109; intellectual disability, autosomal recessive, MONDO:0020850; KDM5B-related neurodevelopmental disorder (monoallelic); neurodevelopmental disorder, MONDO:0700092

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KDM5B. Publications for gene: KDM5B were updated from 28720891; 30409806; 24307393 to 29276005; 24307393; 30409806; 28135719; 28720891 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Oct 2019, Gel status: 2