Description
This panel is used for analysis of pertinent germline findings from whole genome sequencing (WGS) for relevant sarcoma clinical indications in the NHS Genomic Medicine Service.

Further information on the testing criteria can be found in the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/734/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (18 Feb 2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-This panel will be applied to patients recruited under sarcoma clinical indications.
-The 'Tumour predisposition - childhood onset' panel (https://panelapp.genomicsengland.co.uk/panels/243/) will also be applied for WGS analysis for patients under the age of 18 if recruited under sarcoma clinical indications.
-In addition to the tumour-type specific panel and age-dependent panel (if relevant), three broad panels spanning cancer susceptibility genes will also be applied for Tier 3 findings. These are:
Tumour predisposition - childhood onset: https://panelapp.genomicsengland.co.uk/panels/243/
Adult solid tumours cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/245/
Haematological malignancies cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/59/

Notes relating to application of this panel for germline findings for WGS:
-Gastrointestinal stromal tumours (GIST) are not part of the recruitment criteria for this clinical indication.
-Genes which cause a syndrome for which a sarcoma is a minor component have not been included as Green genes on this panel.

General Information:

-The National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts.

-Please contact your Genomic Laboratory Hub for information regarding specific queries. More information about Genomic Laboratory Hubs can be found here: https://www.england.nhs.uk/genomics/genomic-laboratory-hubs/

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Robinson (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

42 Entities

42 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green Green List (high evidence)
EXT1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chondrosarcoma, OMIM:215300
  • Chondrosarcoma (disease), MONDO:0008977
Tags
Green Green List (high evidence)
EXT2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Exostoses, multiple, type 2, OMIM:133701
  • Exostoses, multiple, type 2, MONDO:0007586
Tags
Green Green List (high evidence)
MTAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250
  • Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205
Tags
Green Green List (high evidence)
NF1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Neurofibromatosis, type 1, OMIM:162200
  • Neurofibromatosis type 1, MONDO:0018975
Tags
Green Green List (high evidence)
RECQL4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • RAPADILINO syndrome, OMIM:266280
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
  • Osteosarcoma (disease), MONDO:0009807
Tags
Green Green List (high evidence)
SQSTM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Paget disease of bone 3, OMIM:167250
  • Paget disease of bone 3, MONDO:0008176
  • Osteosarcoma (disease), MONDO:0009807
Tags
Green Green List (high evidence)
T
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chordoma (disease), MONDO:0008978
Tags
Green Green List (high evidence)
TP53
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Li-Fraumeni syndrome, OMIM:151623
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Gardner syndrome, OMIM:175100
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
ATM
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
ATR
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bloom syndrome, OMIM:210900
  • Osteosarcoma (disease), MONDO:0009807
Tags
Amber Amber List (moderate evidence)
BRCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
BUB1B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
CDKN1C
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Beckwith-Wiedemann syndrome, OMIM:130650
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
ERCC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sarcoma, MONDO:0005089
Tags
Amber Amber List (moderate evidence)
FH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Leiomyomatosis and renal cell cancer, OMIM:150800
  • Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
  • Leiomyosarcoma, MONDO:0005058
Tags
Amber Amber List (moderate evidence)
HRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Costello syndrome, OMIM:218040
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
KIT
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Gastrointestinal stromal tumor, familial, OMIM:606764
  • Gastrointestinal stromal tumor, MONDO:0011719
Tags
Amber Amber List (moderate evidence)
MLH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 1, OMIM:276300
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
MSH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 2, OMIM:619096
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
MSH6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 3, OMIM:619097
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
NBN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Nijmegen breakage syndrome, OMIM:251260
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
PMS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome 4, OMIM:619101
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Amber Amber List (moderate evidence)
PTEN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Leiomyosarcoma, MONDO:0005058
Tags
Amber Amber List (moderate evidence)
RB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Retinoblastoma, OMIM:180200
  • Osteosarcoma, somatic, OMIM:259500
Tags
Amber Amber List (moderate evidence)
SDHA
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
SDHB
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Paraganglioma and gastric stromal sarcoma, OMIM:606864
  • Carney-Stratakis syndrome, MONDO:0011740
Tags
Amber Amber List (moderate evidence)
SDHC
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Paraganglioma and gastric stromal sarcoma, OMIM:606864
  • Carney-Stratakis syndrome, MONDO:0011740
Tags
Amber Amber List (moderate evidence)
SDHD
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Paraganglioma and gastric stromal sarcoma, OMIM:606864
  • Carney-Stratakis syndrome, MONDO:0011740
Tags
Amber Amber List (moderate evidence)
SMARCA4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Uterine corpus sarcoma, MONDO:0005210
Tags
Amber Amber List (moderate evidence)
SMARCB1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
  • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
  • {Schwannomatosis-1, susceptibility to}, OMIM:162091
  • Schwannomatosis 1, MONDO:0024517
Tags
Amber Amber List (moderate evidence)
WRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Werner syndrome, OMIM:277700
  • Osteosarcoma (disease), MONDO:0009807
Tags
Red Red List (low evidence)
CREBBP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Rubinstein-Taybi syndrome 1, OMIM:180849
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Red Red List (low evidence)
DICER1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Pleuropulmonary blastoma, OMIM:601200
  • Pleuropulmonary blastoma, MONDO:0011014
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • Embryonal rhabdomyosarcoma (disease), MONDO:0009993
Tags
Red Red List (low evidence)
FOXO1
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, OMIM:268220
Tags
Red Red List (low evidence)
KRAS
3 reviews
2 red
Other
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Nevus, Epidermal, OMIM:162900
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags
Red Red List (low evidence)
PAX3
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, OMIM:268220
Tags
Red Red List (low evidence)
PAX7
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma 2, alveolar, OMIM:268220
Tags
Red Red List (low evidence)
PDGFRA
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Tags
Red Red List (low evidence)
TNFRSF11A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • {Paget disease of bone 2, early-onset}, OMIM:602080
  • Osteosarcoma (disease), MONDO:0009807
Tags
Red Red List (low evidence)
WT1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Wilms tumour 1, OMIM:194070
  • Rhabdomyosarcoma (disease), MONDO:0005212
Tags

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