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  2. Renal Tubulopathies and related disorders
  3. CYP11B1
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Renal Tubulopathies and related disorders

Gene: CYP11B1

Green List (high evidence)
CYP11B1 (cytochrome P450 family 11 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000160882
EnsemblGeneIds (GRCh37): ENSG00000160882
OMIM: 610613, Gene2Phenotype
CYP11B1 is in 7 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Should be green with knowledge that the disease mutation is fusion of CYP11B1 and CYP11B2 genes.
Created: 16 Feb 2022, 3:22 a.m. | Last Modified: 16 Feb 2022, 3:22 a.m.
Panel Version: 1.4
Created: 16 Feb 2022, 3:22 a.m.
Last Modified: 16 Feb 2022, 3:22 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 1.4

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Chimeric protein caused by structural rearrangement. Bi-allelic variants cause CAH.
Sources: Expert Review
Created: 7 Feb 2020, 5 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aldosteronism, glucocorticoid-remediable, MIM# 103900

Publications

Created: 7 Feb 2020, 5 a.m.

Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, MIM# 103900
OMIM
610613
Clinvar variants
Variants in CYP11B1
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: CYP11B1 was added gene: CYP11B1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYP11B1 were set to 29703198; 1731223 Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900