Congenital adrenal hypoplasia
Gene: CYP11B2

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

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:14 a.m. | Last Modified: 6 Dec 2024, 11:14 a.m.

Panel Version: 3.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Dec 2024, 11:14 a.m.
Last Modified: 6 Dec 2024, 11:14 a.m.
Panel version: 3.13

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

'Treatable' tag has been added as children with ASD achieved catchup growth when treated with fludrocortisone.
Created: 28 Feb 2023, 10:53 a.m. | Last Modified: 28 Feb 2023, 10:53 a.m.

Panel Version: 3.6

Comment on gene rating: This gene should be rated GREEN as it has been associated with adrenal hypoplasia from a large number of unrelated cases (>50) displaying autosomal recessive inheritance.

Both homozygous and compound heterozygous variants in CYP11B2 have been reported with Aldosterone Synthase Deficiency (ASD). ASD is a rare autosomal recessive disorder characterized by severe hyperkalemia, salt loss, vomiting, severe dehydration and failure to thrive.

This gene has been associated with relevant phenotypes in OMIM (MIM #203400 & #610600), but not in Gene2Phenotype.
Created: 27 Feb 2023, 2:01 p.m. | Last Modified: 27 Feb 2023, 2:01 p.m.

Panel Version: 3.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Aldosterone to renin ratio raised

Publications

Created: 27 Feb 2023, 2:01 p.m.
Last Modified: 27 Feb 2023, 2:01 p.m.
Panel version: 3.6

Abhijit Dixit (Nottingham University Hospitals NHS Trust)

Green List (high evidence)

There are numerous reports of aldosterone deficiency as a consequence of biallelic CYP11B2 variants in literature from 1990s onwards. Miao et al. reviewed 45 published cases in 2019 - see PubMed 31302112.
Sources: Literature
Created: 1 Nov 2022, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive

Publications

Created: 1 Nov 2022, 4:27 p.m.

Panel version: 2.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400
Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600
Aldosterone to renin ratio raised

Tags

treatable

OMIM

124080

Clinvar variants

Variants in CYP11B2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: CYP11B2.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CYP11B2. Source Expert Review Green was added to CYP11B2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Feb 2023, Gel status: 2