Renal Tubulopathies and related disorders
Gene: CYP24A1

CYP24A1 (cytochrome P450 family 24 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000019186
EnsemblGeneIds (GRCh37): ENSG00000019186
OMIM: 126065, Gene2Phenotype
CYP24A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Infantile hypercalcaemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Well established gene-disease association, more than 10 unrelated families reported.
Created: 5 Apr 2021, 11:24 a.m. | Last Modified: 5 Apr 2021, 11:24 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739

Publications

Created: 5 Apr 2021, 11:24 a.m.
Last Modified: 5 Apr 2021, 11:24 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_CalcPhos v38.1.0
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypercalcaemia, infantile, 1, MIM# 143880
MONDO:0020739

OMIM

126065

Clinvar variants

Variants in CYP24A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP24A1 was added gene: CYP24A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP24A1 were set to 21675912; 33186763; 32743688; 33516786; 32866123; 22047572 Phenotypes for gene: CYP24A1 were set to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739

Renal Tubulopathies and related disorders Gene: CYP24A1