Genetic Epilepsy
Gene: KDM5A

KDM5A (lysine demethylase 5A)
EnsemblGeneIds (GRCh38): ENSG00000073614
EnsemblGeneIds (GRCh37): ENSG00000073614
OMIM: 180202, Gene2Phenotype
KDM5A is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 34210021 - large multigene deletion in a family with ID, epilepsy and schizophrenia. This gene and CACNA1C were considered the best candidates.

No evidence of SNVs in this gene causing epilepsy. This gene was on the Oliver list
Sources: Literature
Created: 25 Jan 2024, 5:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, KDM5A-related

Publications

PMID: 34210021

Created: 25 Jan 2024, 5:35 a.m.

Panel version: 0.2185

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Neurodevelopmental disorder MONDO:0700092, KDM5A-related

OMIM

180202

Clinvar variants

Variants in KDM5A

Penetrance

None

Publications

PMID: 34210021

Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kdm5a has been classified as Red List (Low Evidence).

25 Jan 2024, Gel status: 1

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