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Neuroblastoma (Version 1.1)

Level 2: Cancer Predisposition

Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Cancer Germline, Adult Genetics Unit, Royal Adelaide Hospital
Description
This panel contains genes associated with neuroblastoma. 

Further information on the testing criteria for neuroblastoma can be found at eviQ: 
https://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3734-neuroblastoma-panel-testing

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with neuroblastoma 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).
Panel Activity

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

3 Entities

3 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green List (high evidence)
ALK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neuroblastoma, MONDO:0005072
  • Neuroblastoma susceptibility to 3, MONDO:0013083
  • Neuroblastoma, susceptibility to, 3, MIM#613014
Tags
Green List (high evidence)
PHOX2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neuroblastoma, MONDO:0005072
  • Neuroblastoma susceptibility to 2, MONDO:0700041
  • Neuroblastoma, susceptibility to, 2, MIM#613013
  • Neuroblastoma with Hirschsprung disease, MIM #613013
Tags
Amber List (moderate evidence)
SMARCA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Neuroblastoma, MONDO:0005072
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • Rhabdoid tumor predisposition syndrome 2, MIM#613325
Tags

Major version comments

  • 2024-10-09 03:08 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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