Description
This panel contains genes associated with basal cell cancer. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with basal cell cancer 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 has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

3 Entities

3 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green Green List (high evidence)
PTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Basal cell carcinoma, MONDO:0020804
  • Basal cell nevus syndrome 1, MONDO:0958174
  • Basal cell nevus syndrome 1, MIM#109400
Tags
Green Green List (high evidence)
SUFU
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Basal cell carcinoma, MONDO:0020804
  • Basal cell nevus syndrome 2, MONDO:0958189
  • Basal cell nevus syndrome 2, MIM#620343
  • Meningioma, familial, susceptibility to, MIM#607174
  • Medulloblastoma predisposition syndrome, MIM#155255
Tags
Red Red List (low evidence)
PTCH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Basal cell carcinoma, MONDO:0020804
  • Nevoid basal cell carcinoma syndrome, MONDO:0007187
Tags

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