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| Hypophosphataemia or rickets v0.34 | CYP3A4 | Ivone Leong commented on gene: CYP3A4: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.33 | CYP3A4 | Martina Owens reviewed gene: CYP3A4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 29461981; Phenotypes: Vitamin D-Dependent Rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.33 | CYP3A4 | Martina Owens Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.30 | CYP3A4 | Ivone Leong Marked gene: CYP3A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.30 | CYP3A4 | Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.30 | CYP3A4 | Ivone Leong Classified gene: CYP3A4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.30 | CYP3A4 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber.There is not sufficient evidence to promote this gene to green status. The functional studies described in PMID: 29461981 is only in vitro studies. Have put 'watchlist' tag on. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.30 | CYP3A4 | Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.27 | CYP3A4 | Martina Owens reviewed gene: CYP3A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461981; Phenotypes: vitamin Ddependent rickets type 3 (no OMIM number); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.26 | CYP3A4 |
Ivone Leong gene: CYP3A4 was added gene: CYP3A4 was added to Hypophosphataemia or rickets. Sources: NHS GMS Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP3A4 were set to 29461981 |
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