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Newborns main panel

Gene: CYP24A1

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 21675912 (8 cases), PMID: 38504242 (2 cases), PMID: 32866123 (1 case)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypercalcemia, infantile, 1
OMIM
126065
Clinvar variants
Variants in CYP24A1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CYP24A1 was added gene: CYP24A1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP24A1 were set to Hypercalcemia, infantile, 1