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| Hypertension and Aldosterone disorders v1.16 | ARMC5 | Zornitza Stark Marked gene: ARMC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v1.16 | ARMC5 | Zornitza Stark Gene: armc5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v1.16 | ARMC5 |
Chirag Patel gene: ARMC5 was added gene: ARMC5 was added to Hypertension and Aldosterone disorders. Sources: Literature Mode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARMC5 were set to 25822102 Phenotypes for gene: ARMC5 were set to Primary aldosteronism, MONDO:0001422 Review for gene: ARMC5 was set to RED Added comment: 12 germline ARMC5 genetic variants (9 missense and 2 intronic) in 20 unrelated and 2 related individuals in a cohort of 56 patients with primary aldosteronism. 4/9 missense variants and 2/3 intronic variants were predicted to be damaging by in silico analysis. All affected patients carrying a variant predicted to be damaging were African Americans. However, the variants were seen too commonly in the general population. No functional assays of the variants. Note: ARMC5 has established association with Primary pigmented nodular adrenocortical disease. Sources: Literature |
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