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  2. Sarcoma non-soft tissue

Sarcoma non-soft tissue (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 non-soft tissue sarcoma. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with non-soft tissue sarcoma 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)

7 Entities

7 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green List (high evidence)
BLM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Bloom syndrome, MONDO:0008876
  • Bloom syndrome, MIM#210900
Tags
Green List (high evidence)
EXT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Exostoses, multiple, type 1, MONDO:0007585
  • Exostoses, multiple, type 1, MIM#133700
Tags
Green List (high evidence)
EXT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Exostoses, multiple, type 2, MONDO:0007586
  • Exostoses, multiple, type 2, MIM#133701
Tags
Green List (high evidence)
RB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Retinoblastoma, MONDO:0008380
  • Retinoblastoma, MIM#180200
Tags
Green List (high evidence)
RECQL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Rothmund-Thomson syndrome type 2, MONDO:0016369
  • Rothmund-Thomson syndrome, type 2, MIM#268400
Tags
Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Li-Fraumeni syndrome, MONDO:0018875
  • Li-Fraumeni syndrome, MIM#151623
Tags
Green List (high evidence)
WRN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sarcoma, MONDO:0005089
  • Werner syndrome, MONDO:0010196
  • Werner syndrome, MIM#277700
Tags

Major version comments

  • 2024-10-09 03:32 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)

Download Version