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| Congenital adrenal hypoplasia v3.6 | CYP11B2 | Achchuthan Shanmugasundram commented on gene: CYP11B2: 'Treatable' tag has been added as children with ASD achieved catchup growth when treated with fludrocortisone. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.6 | CYP11B2 | Achchuthan Shanmugasundram Tag treatable tag was added to gene: CYP11B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.6 | CYP11B2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CYP11B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.6 | CYP11B2 | Achchuthan Shanmugasundram edited their review of gene: CYP11B2: Changed phenotypes to: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600, Aldosterone to renin ratio raised | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.6 | CYP11B2 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.5 | CYP11B2 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.4 | CYP11B2 | Achchuthan Shanmugasundram Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.3 | CYP11B2 | Achchuthan Shanmugasundram Classified gene: CYP11B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.3 | CYP11B2 | Achchuthan Shanmugasundram Gene: cyp11b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.2 | CYP11B2 | Achchuthan Shanmugasundram reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594605, 8439335, 9360501, 12788848, 31302112, 33098647, 33438832, 34415991, 35848593; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.11 | CYP11B2 |
Abhijit Dixit 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 Added comment: 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 |
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