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| Congenital adrenal hyperplasia diagnostic test v1.2 | CYP21A2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #201910) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hyperplasia diagnostic test v1.2 | CYP21A2 | Achchuthan Shanmugasundram Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, OMIM:201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, OMIM:201910; classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, MONDO:0008728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hyperplasia diagnostic test v0.1 | CYP21A2 | Achchuthan Shanmugasundram reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hyperplasia diagnostic test v0.1 | CYP21A2 |
Achchuthan Shanmugasundram gene: CYP21A2 was added gene: CYP21A2 was added to Congenital adrenal hyperplasia diagnostic test. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal |
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