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| Renal tubulopathies v1.113 | CYP24A1 | Eleanor Williams Classified gene: CYP24A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.113 | CYP24A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.113 | CYP24A1 | Eleanor Williams Gene: cyp24a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.112 | CYP24A1 | Eleanor Williams Added comment: Comment on publications: Publications from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.112 | CYP24A1 | Eleanor Williams Publications for gene: CYP24A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.111 | CYP24A1 | Eleanor Williams Mode of inheritance for gene: CYP24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | CYP24A1 |
Eleanor Williams commented on gene: CYP24A1: 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. |
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| Renal tubulopathies v1.39 | CYP24A1 | Eleanor Williams Phenotypes for gene: CYP24A1 were changed from to Hypercalcemia, infantile, 1 143880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | CYP24A1 | Eleanor Williams reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypercalcemia, infantile, 1 MIM 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | CYP24A1 |
Eleanor Williams gene: CYP24A1 was added gene: CYP24A1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CYP24A1 was set to |
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