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  3. KDM5A
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Intellectual disability syndromic and non-syndromic

Gene: KDM5A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms.

PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.

In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.

This gene has already been associated with phenotype in Gene2Phenotype (biallelic inheritance with 'limited' rating), but not in OMIM.
Sources: Literature
Created: 3 May 2023, 10:05 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, KDM5A-related; El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820

Publications

Created: 3 May 2023, 10:05 a.m.

Panel version: 0.5797

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, KDM5A-related
  • El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820
OMIM
180202
Clinvar variants
Variants in KDM5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM5A were changed from Neurodevelopmental disorder MONDO:0700092, KDM5A-related to Neurodevelopmental disorder MONDO:0700092, KDM5A-related; El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820

3 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm5a has been classified as Green List (High Evidence).

3 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm5a has been classified as Green List (High Evidence).

3 May 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDM5A was added gene: KDM5A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 21937992; 33350388 Phenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related Review for gene: KDM5A was set to GREEN