CYP27B1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CYP27B1 in Hypophosphataemia or rickets


Level 2: Endocrine disorders; Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I MIM#264700
Tags
  • treatable

Green CYP27B1 in Mendeliome


Version 2.0

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 Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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 1.0

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 2.0

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 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