1. Panels
  2. Fetal anomalies
  3. KDM5A
Genes in panel
Prev Next

Fetal anomalies

Gene: KDM5A

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Chandler (North Thames GLH)

I don't know

Green in ID panel. PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID33350388 7 families 9 cases, 4 families with AR hom variants, 3 with de novo het ? Mode of inheritance, only in OMIM as AR. 2/4 with AR. Thin CC in 1 family AR (2 cases). 3 with cardiac defects 2xASD, 1xmurmur, coarctation of the aorta. Need more cases to support thin CC.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
El Hayek-Chahrour neurodevelopmental syndrome, MIM#620820

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
OMIM
180202
Clinvar variants
Variants in KDM5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KDM5A was added gene: KDM5A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 33350388; 21937992 Phenotypes for gene: KDM5A were set to El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820