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| Fetal anomalies v0.328 | VDR | Rebecca Foulger Classified gene: VDR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.328 | VDR | Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following discussions with Anna de Burca (Genomics England Clinical Team) and Rhiannon Mellis (Great Ormond Street). As Anna and Rhiannon note: rickets due to VDR could theoretically present in a fetus of a homozygous mother, as Melita suggested, but it would actually be caused by the mother’s vitamin D status irrespective of the baby’s genotype. Therefore, rather than performing a fetal exome, it would be better investigating the mother, who would have clinical signs and biochemical abnormalities in her own right. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.328 | VDR | Rebecca Foulger Gene: vdr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.327 | VDR | Rebecca Foulger changed review comment from: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.; to: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.320 | VDR | Rebecca Foulger commented on gene: VDR: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VDR | Rebecca Foulger reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A |
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