Sarcoma susceptibility (Version 1.81)

The latest signed off version for the GMS is v1.2. The current version, shown here, may differ from the signed-off version.

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/.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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/

Panel Activity

13 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
Eleanor Williams (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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Adrienne Flanagan (Royal National Orthopaedic Hospital)

Group: Other NHS organisation
Workplace: NHS diagnostic lab

44 Entities

44 reviewed, 8 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 44 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 new-gene-name
Green Green List (high evidence)	TP53	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Li-Fraumeni syndrome, OMIM:151623 Solitary Fibrous Tumour 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)	FANCC	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Ewing sarcoma, MONDO:0012817 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)	TERT	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Other Phenotypes Solitary Fibrous Tumour Tags promoter somatic
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

Major version comments

2019-12-10 16:38 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.10) was signed off under NHS Genomic Medicine Service governance on (10/Dec/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Sarcoma susceptibility (Version 1.81)

13 reviewers

44 Entities

44 reviewed, 8 green

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