VDR

vitamin D receptor
OMIM: 601769, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green VDR in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440
Green VDR in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440
Green VDR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, 277440
Green VDR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets
Red VDR in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440
Green VDR in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Rickets, vitamin D-resistant, type IIA MIM#277440 Tags treatable endocrine
Green VDR in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Red Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440
Green VDR in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism