Proteinuric renal disease
Gene: CYP11B2
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
Comment on list classification: No evidence in this phenotype.Created: 16 May 2016, 8:43 p.m.
Risk factor. Currently on UK diagnostic panel, but no positive cases over 300 testedCreated: 19 Oct 2015, 2:25 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency #203400; Hypoaldosteronism, congenital, due to CMO II deficiency #610600
Publications for gene: CYP11B2 were set to
Source NHS GMS was added to CYP11B2.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CYP11B2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
CYP11B2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing