1. Panels
  2. Fetal anomalies
  3. CYP24A1
Genes in panel
Prev Next

Fetal anomalies

Gene: CYP24A1

Red List (low evidence)
CYP24A1 (cytochrome P450 family 24 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000019186
EnsemblGeneIds (GRCh37): ENSG00000019186
OMIM: 126065, Gene2Phenotype
CYP24A1 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in renal panels in both Aus & UK panel app. Not reviewed on fetal panels. PMID 34307984 looked at prevalence of kidney cysts - median age 37 range 3-60. Other features hypercalcaemia, nephrolithiasis, nephrocalcinosis. Red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypercalcaemia; nephrocalcinosis; cystic kidney disease

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • cystic kidney disease
  • hypercalcaemia
  • nephrocalcinosis
OMIM
126065
Clinvar variants
Variants in CYP24A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: CYP24A1 was added gene: CYP24A1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP24A1 were set to 28324001; 34307984; 22337913; 27105398 Phenotypes for gene: CYP24A1 were set to cystic kidney disease; hypercalcaemia; nephrocalcinosis