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| Primary pigmented nodular adrenocortical disease v0.12 | PRKACA | Zornitza Stark Marked gene: PRKACA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v0.12 | PRKACA | Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v0.10 | PRKACA |
Chirag Patel changed review comment from: 10 individuals from 8 unrelated family reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. All individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. Patient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. Sources: Literature; to: Numerous cases reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. All individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. Patient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. |
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| Primary pigmented nodular adrenocortical disease v0.10 | PRKACA | Chirag Patel Publications for gene: PRKACA were set to 24571724, 25924874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v0.9 | PRKACA | Chirag Patel Classified gene: PRKACA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v0.9 | PRKACA | Chirag Patel Gene: prkaca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v0.8 | PRKACA |
Chirag Patel gene: PRKACA was added gene: PRKACA was added to Primary pigmented nodular adrenocortical disease. Sources: Literature Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 24571724, 25924874 Phenotypes for gene: PRKACA were set to Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359 Mode of pathogenicity for gene: PRKACA was set to Other Review for gene: PRKACA was set to GREEN Added comment: 10 individuals from 8 unrelated family reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. All individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. Patient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. Sources: Literature |
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