CYP27B1:Ensemblv90

cytochrome P450 family 27 subfamily B member 1
OMIM: 609506, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CYP27B1 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable
Green CYP27B1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.29	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable
Green CYP27B1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Vitamin D-dependent rickets, type I 264700
Green CYP27B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets, type I
Green CYP27B1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable endocrine
Green CYP27B1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700
Green CYP27B1 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 1A MONDO:0020723 Other disorders of vitamin metabolism
Green CYP27B1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable
Green CYP27B1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Phenotypes Vitamin D-dependent rickets, type I 264700
Green CYP27B1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Vitamin D-dependent rickets, type I
Green CYP27B1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags treatable endocrine
Green CYP27B1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700
Green CYP27B1 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 1A MONDO:0020723 Other disorders of vitamin metabolism