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Newborns main panel

Gene: CYP11B2

Green List (high evidence)
CYP11B2 (cytochrome P450 family 11 subfamily B member 2)
EnsemblGeneIds (GRCh38): ENSG00000179142
EnsemblGeneIds (GRCh37): ENSG00000179142
OMIM: 124080, Gene2Phenotype
CYP11B2 is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33098647 - 62 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency
OMIM
124080
Clinvar variants
Variants in CYP11B2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency for gene: CYP11B2

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CYP11B2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency for gene: CYP11B2

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CYP11B2.

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP11B2. Mode of inheritance for gene CYP11B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency for gene: CYP11B2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CYP11B2.

9 Mar 2023, Gel status: 0

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CYP11B2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency for gene: CYP11B2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP11B2 was added gene: CYP11B2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CYP11B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown