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.

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 25 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:
-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 National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts.

-The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for involvement of a gene in cancer susceptibility, this requires consideration of technical aspects of the assay(s) available.

-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/

9 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

42 Entities

42 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green Green List (high evidence)
EXT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chondrosarcoma 215300
Tags
Green Green List (high evidence)
EXT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Exostoses, multiple, type 2
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 112250
  • UPS of bone
Tags
Green Green List (high evidence)
NF1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Neurofibromatosis, type 1 162200
Tags
Green Green List (high evidence)
RECQL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes
  • Osteosarcoma
Tags
Green Green List (high evidence)
SQSTM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteosarcoma
  • Paget disease of bone 3 167250
Tags
Green Green List (high evidence)
T
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Chordoma
  • Chordoma
Tags
Green Green List (high evidence)
TP53
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sarcoma
  • Li-Fraumeni syndrome, 151623
Tags
Amber Amber List (moderate evidence)
APC
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Gardner / fibromatosis
  • Gardner syndrome
Tags
Amber Amber List (moderate evidence)
ATM
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ATR
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
BLM
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bloom
Tags
Amber Amber List (moderate evidence)
BRCA2
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
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, 257300
Tags
Amber Amber List (moderate evidence)
CDKN1C
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
Tags
Amber Amber List (moderate evidence)
ERCC2
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
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 150800
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, 218040
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
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, 276300
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, 276300
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, 276300
Tags
Amber Amber List (moderate evidence)
NBN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Nijmegen breakage syndrome, 251260
Tags
Amber Amber List (moderate evidence)
PMS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Amber Amber List (moderate evidence)
PTEN
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Paraganglioma
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, 180200
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
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
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
Tags
Amber Amber List (moderate evidence)
SMARCA4
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • undifferentiated uterine sarcoma
Tags
Amber Amber List (moderate evidence)
SMARCB1
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Rhabdoid tu, schwannomatosis
Tags
Amber Amber List (moderate evidence)
WRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Werner syndrome 277700
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, 180849
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, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
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, 268220
Tags
Red Red List (low evidence)
KRAS
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Nevus, Epidermal 162900
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, 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, 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 Green
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Gastrointestinal stromal tumor, somatic 606764
  • Familial GIST
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
  • Polyostotic osteolytic dysplasia (hereditary expansile)
  • Osteosarcoma
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, 194070
Tags

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