CYP27B1

Green CYP27B1 in Mendeliome

Version 1.1891

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 1.24

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 0.285

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

Sources

• BabySeq Category A gene
• Expert Review Green

Phenotypes

• Vitamin D-dependent rickets, type I

Green CYP27B1 in BabyScreen+ newborn screening

Level 2: Screening
Version 1.113

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 1.14

Component of the following Super Panels:

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 1.6

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• vitamin D-dependent rickets, type 1A MONDO:0020723
• Other disorders of vitamin metabolism