Renal tubulopathies

Gene: CYP24A1

Green List (high evidence)

Comment on list classification: Changing rating from red to green as more than 3 cases reported in OMIM.

Created: 4 Sep 2019, 9:29 p.m. | Last Modified: 4 Sep 2019, 9:29 p.m.

Panel Version: 1.113

Comment on publications: Publications from OMIM

Created: 4 Sep 2019, 9:28 p.m. | Last Modified: 4 Sep 2019, 9:28 p.m.

Panel Version: 1.112

Associated with Hypercalcemia, infantile, 1 143880 in OMIM.

PMID: 21675912 - Schlingmann et al 2011 - from OMIM - In 7 patients from 8 unrelated families with infantile hypercalcemia-1 they identified homozygosity or compound heterozygosity for mutations in the CYP24A1 gene. In 1 patient, a heterozygous complex deletion in CYP24A1 was identified, but no other mutation was detected by sequence analysis.

PMID: 22047572 - Streeten et al 2011 - from OMIM- 47-year-old man who had an episode of nephrolithiasis at 19 years of age and was subsequently asymptomatic until hypercalcemia was discovered on routine testing at 39 years of age, Streeten et al. identified homozygosity for a 3-bp deletion in the CYP24A1 gene.

Created: 30 Aug 2019, 10:42 a.m. | Last Modified: 30 Aug 2019, 10:42 a.m.

Panel Version: 1.82

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CYP24A1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercalcemia, infantile, 1 MIM 143880

Variants in this GENE are reported as part of current diagnostic practice