| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.141 | CYP3A4 | Zornitza Stark Marked gene: CYP3A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.141 | CYP3A4 | Zornitza Stark Gene: cyp3a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.141 | CYP3A4 | Zornitza Stark Classified gene: CYP3A4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.141 | CYP3A4 | Zornitza Stark Gene: cyp3a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.140 | CYP3A4 | Zornitza Stark Tag treatable tag was added to gene: CYP3A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.140 | CYP3A4 |
Zornitza Stark gene: CYP3A4 was added gene: CYP3A4 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP3A4 were set to 38179381; 36656330; 29461981 Phenotypes for gene: CYP3A4 were set to vitamin D-dependent rickets, type 3, MONDO:0033640 Review for gene: CYP3A4 was set to AMBER Added comment: Four families with the CYP3A4 c.902T>C (p.Ile301Thr) missense variant reported presenting with vitamin D‑dependent rickets type 3 (VDDR3), a childhood‑onset disorder characterised by rickets, growth arrest, bone deformities and accelerated vitamin D metabolite inactivation. The variant shows gain‑of‑function activity in vitro, and the disease is treatable with high‑dose vitamin D therapy. Amber rating as all families have had the same variant. Different ethnic backgrounds make founder effect unlikely. Sources: Literature |
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