Description
This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

6 Entities

6 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green Green List (high evidence)
ARMC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416
Tags
Green Green List (high evidence)
KDM1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299
Tags
Green Green List (high evidence)
PDE11A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505
Tags
Green Green List (high evidence)
PDE8B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616
Tags
Green Green List (high evidence)
PRKACA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359
Tags
Green Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509
  • Carney complex type 1, MONDO:0008057
Tags

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