Hypophosphataemia or rickets
Gene: CYP3A4
Roizen et al 2018 (PMID 29461981) - 2 unrelated females with vitamin D deficient rickets. Both had de novo missense variant. VDDR due to accelerated inactivation of vitamin D metabolites.Created: 28 Jan 2019, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vitamin D-Dependent Rickets
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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.Created: 29 Jan 2019, 11:47 a.m.
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.Created: 16 Jan 2019, 2:15 p.m.
Ivone Leong: Comment on list classification
Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
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