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  3. CYP11B2
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Proteinuric renal disease

Gene: CYP11B2

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

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: CYP11B2; Suggested initial gene rating: red; Evidence for inclusion: PMID: 9814506; PMID: 24022297;
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
Unknown

Phenotypes
Hypoaldosteronism, congenital, due to CMO I deficiency #203400; Hypoaldosteronism, congenital, due to CMO II deficiency #610600

Publications

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

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Ellen Thomas (Genomics England Curator)

Comment on list classification: No evidence in this phenotype.
Created: 16 May 2016, 8:43 p.m.
Created: 16 May 2016, 8:43 p.m.

Panel version: 0.111

Maggie Williams (North Bristol NHS Trust)

I don't know

Risk factor. Currently on UK diagnostic panel, but no positive cases over 300 tested
Created: 19 Oct 2015, 2:25 p.m.

Mode of inheritance
Unknown

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

Created: 19 Oct 2015, 2:25 p.m.

Panel version: 0

Details

Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency #203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency #610600
OMIM
124080
Clinvar variants
Variants in CYP11B2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency #203400; Hypoaldosteronism, congenital, due to CMO II deficiency #610600

24 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CYP11B2 were set to

4 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CYP11B2.

16 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP11B2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing

18 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP11B2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing