| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypophosphataemia or rickets v0.41 | CYP3A4 | Chirag Patel Classified gene: CYP3A4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.41 | CYP3A4 | Chirag Patel Gene: cyp3a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.40 | CYP3A4 | Chirag Patel Classified gene: CYP3A4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.40 | CYP3A4 | Chirag Patel Gene: cyp3a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.39 | CYP3A4 |
Chirag Patel gene: CYP3A4 was added gene: CYP3A4 was added to Hypophosphataemic Rickets. Sources: Expert Review Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP3A4 were set to PMID: 38179381, 29461981, 36656330 Phenotypes for gene: CYP3A4 were set to Vitamin D-dependent rickets, type 3, MIM#619073 Review for gene: CYP3A4 was set to AMBER Added comment: Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, hypocalcaemia and hypophosphataemia. 4 cases reported with the same missense variant (I301T). Roizen et al 2018 (PMID 29461981) 2 unrelated females (European and Middle Eastern ancestry) with vitamin D deficient rickets. WES identified the same missense variant (I301T) in both individuals. Mantoanelli et al 2023 (PMID 36656330) 1 individual with poor growth and bone deformities (i.e. rickets) with no family history, and the same missense variant (I301T). Al-Ashwal et al 2023 (PMID 38179381) 1 individual (Middle Eastern ancestry) with poor growth, bone deformities (e.g. rickets, genu valgum), reduced 25-hydroxyvitamin, hypocalcaemia and normal phosphate. WES identified the same missense variant (I301T). She had a strong family history of rickets, but segregation not reported. Sources: Expert Review |
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