Congenital adrenal hypoplasia
Gene: CYP11B2
'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
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: LiteratureCreated: 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
Tag treatable tag was added to gene: CYP11B2.
Tag Q1_23_promote_green tag was added to gene: CYP11B2.
Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600 to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Aldosterone to renin ratio raised
Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600
Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848
Gene: cyp11b2 has been classified as Amber List (Moderate Evidence).
gene: CYP11B2 was added gene: CYP11B2 was added to Congenital adrenal hypoplasia. Sources: Literature Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848 Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive Penetrance for gene: CYP11B2 were set to Complete Review for gene: CYP11B2 was set to GREEN