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  3. CYP27B1
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Calcium and Phosphate 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: 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 Mendeliome panel version 0.13928

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Vitamin D-dependent rickets, type I MIM#264700
Tags
treatable
OMIM
609506
Clinvar variants
Variants in CYP27B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cyp27b1 has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700

30 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CYP27B1 were set to

30 May 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CYP27B1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP27B1 was added gene: CYP27B1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CYP27B1 was set to Unknown