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  3. CYP27B1
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Renal Tubulopathies and related disorders

Gene: CYP27B1

Green List (high evidence)
CYP27B1 (cytochrome P450 family 27 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000111012
EnsemblGeneIds (GRCh37): ENSG00000111012
OMIM: 609506, Gene2Phenotype
CYP27B1 is in 7 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established association
Created: 2 Dec 2022, 12:16 a.m. | Last Modified: 2 Dec 2022, 12:16 a.m.
Panel Version: 0.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vitamin D-dependent rickets, type I MIM#264700

Publications

Created: 2 Dec 2022, 12:16 a.m.
Last Modified: 2 Dec 2022, 12:16 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version 0.79

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established association
Created: 8 May 2022, 10:41 p.m. | Last Modified: 8 May 2022, 10:41 p.m.
Panel Version: 0.13928

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vitamin D-dependent rickets, type I MIM#264700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 May 2022, 10:41 p.m.
Last Modified: 8 May 2022, 10:41 p.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.13928

Details

Mode of Inheritance
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
OMIM
609506
Clinvar variants
Variants in CYP27B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP27B1 was added gene: CYP27B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27B1 were set to 27473561; 34492747; 12050193; 9486994; 33823104; 9415400 Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I MIM#264700