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Primary pigmented nodular adrenocortical disease v0.12 PDE11A Zornitza Stark Marked gene: PDE11A as ready
Primary pigmented nodular adrenocortical disease v0.12 PDE11A Zornitza Stark Gene: pde11a has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.12 PDE8B Zornitza Stark Marked gene: PDE8B as ready
Primary pigmented nodular adrenocortical disease v0.12 PDE8B Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence).
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 v0.12 ARMC5 Zornitza Stark Marked gene: ARMC5 as ready
Primary pigmented nodular adrenocortical disease v0.12 ARMC5 Zornitza Stark Gene: armc5 has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.12 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Primary pigmented nodular adrenocortical disease v0.12 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.12 ARMC5 Chirag Patel Classified gene: ARMC5 as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.12 ARMC5 Chirag Patel Gene: armc5 has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.11 ARMC5 Chirag Patel gene: ARMC5 was added
gene: ARMC5 was added to Primary pigmented nodular adrenocortical disease. Sources: Literature
Mode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARMC5 were set to 39910635, 41042544, 25853793, 24283224, 24601692, 24708098, 24905064, 39006359, 32097969
Phenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416
Review for gene: ARMC5 was set to GREEN
Added comment: Numerous cases reported and established gene-disease association.
Sources: Literature
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.
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
Primary pigmented nodular adrenocortical disease v0.7 PDE8B Chirag Patel Classified gene: PDE8B as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.7 PDE8B Chirag Patel Gene: pde8b has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.6 PDE8B Chirag Patel gene: PDE8B was added
gene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List
Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE8B were set to 39006359, 32097969, 18272904, 25971952, 22335482, 18431404
Phenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616
Review for gene: PDE8B was set to GREEN
Added comment: Numerous cases reported and established gene-disease association
Sources: Expert List
Primary pigmented nodular adrenocortical disease v0.5 PDE11A Chirag Patel Publications for gene PDE11A were changed from 39006359, 16767104, 20351491, 18491255, 18559625, 32097969 to 39006359, 16767104, 20351491, 18491255, 18559625, 32097969
Primary pigmented nodular adrenocortical disease v0.4 PDE11A Chirag Patel Classified gene: PDE11A as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.4 PDE11A Chirag Patel Gene: pde11a has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.3 PDE11A Chirag Patel gene: PDE11A was added
gene: PDE11A was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE11A were set to 39006359, 16767104, 20351491, 18491255, 18559625
Phenotypes for gene: PDE11A were set to Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505
Review for gene: PDE11A was set to GREEN
Added comment: Numerous cases reported and established gene-disease association
Sources: Expert List
Primary pigmented nodular adrenocortical disease v0.2 PRKAR1A Chirag Patel Classified gene: PRKAR1A as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.2 PRKAR1A Chirag Patel Gene: prkar1a has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.1 PRKAR1A Chirag Patel gene: PRKAR1A was added
gene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 39006359, 12213893, 40066253, 39355138, 11115848
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509; Carney complex type 1, MONDO:0008057
Review for gene: PRKAR1A was set to GREEN
Added comment: Pigmented nodular adrenocortical disease reported in Carney complex.
Gene-disease association is definitive in ClinGen.

Pigmented nodular adrenocortical disease can also occur in isolation with numerous cases reported.
Sources: Expert List
Primary pigmented nodular adrenocortical disease v0.0 Chirag Patel Added Panel Primary pigmented nodular adrenocortical disease
Set panel types to: Genetic Health Queensland