PanelApp (staging)
  1. Panels
  2. Melanoma
Description
This panel contains genes associated with melanoma. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with melanoma and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

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

This panel was previously developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. The panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).
Panel Activity

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

4 Entities

4 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green Green List (high evidence)
BAP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • BAP1-related tumor predisposition syndrome, MONDO:0013692
  • BAP1-tumour predisposition syndrome, MIM#614327
Tags
Green Green List (high evidence)
CDK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • CDK4 linked melanoma, MONDO:0022623
  • Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183
  • Melanoma, cutaneous malignant, 3, MIM#609048
Tags
Green Green List (high evidence)
CDKN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
  • Melanoma and neural system tumor syndrome, MONDO:0007967
  • Melanoma, cutaneous malignant, 2, MIM#155601
  • Melanoma-pancreatic cancer syndrome, MIM#606719
  • Melanoma and neural system tumor syndrome, MIM#155755
Tags
Green Green List (high evidence)
POT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Melanoma, MONDO:0005105
  • Tumor predisposition syndrome 3, MONDO:0014368
  • Melanoma, cutaneous malignant, MIM#606478
Tags

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