Renal tubulopathies
Gene: CYP24A1
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 OMIMCreated: 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 providedCreated: 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
Gene: cyp24a1 has been classified as Green List (High Evidence).
Publications for gene: CYP24A1 were set to
Mode of inheritance for gene: CYP24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP24A1 were changed from to Hypercalcemia, infantile, 1 143880
gene: CYP24A1 was added gene: CYP24A1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CYP24A1 was set to