1. Panels
  2. Sarcoma of possible germline origin

Sarcoma of possible germline origin (Version 0.7)

Level 2: Inherited cancer

Relevant disorders: R457
Panel types: GMS Rare Disease Virtual, GMS Rare Disease
Description
THIS PANEL IS CURRENTLY UNDER DEVELOPMENT.

This panel is used for clinical indication 'R457 Sarcoma of possible germline origin' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R457 Sarcoma of possible germline origin'.

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.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Panel Activity

1 reviewer

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

13 Entities

13 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green List (high evidence)
BUB1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • mosaic variegated aneuploidy syndrome 1, MONDO:0009759
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Tags
Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
  • CBL-related disorder, MONDO:0013308
  • ?Juvenile myelomonocytic leukemia, OMIM:607785
Tags
Green List (high evidence)
DICER1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pleuropulmonary blastoma, OMIM:601200
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • rhabdomyosarcoma, embryonal, 2, MONDO:0859046
  • DICER1-related tumor predisposition, MONDO:0100216
Tags
Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Costello syndrome, MONDO:0009026
  • Costello syndrome, OMIM:218040
Tags
Green List (high evidence)
KRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 3, OMIM:609942
  • cardiofaciocutaneous syndrome 2, MONDO:0014112
  • Noonan syndrome 3, MONDO:0012371
  • Cardiofaciocutaneous syndrome 2, OMIM:615278
  • RAS-associated autoimmune leukoproliferative disorder, OMIM:614470
Tags
Green List (high evidence)
NBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nijmegen breakage syndrome, OMIM:251260
  • Nijmegen breakage syndrome, MONDO:0009623
Tags
Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurofibromatosis type 1, MONDO:0018975
  • Neurofibromatosis, type 1, OMIM:162200
  • neurofibromatosis-Noonan syndrome, MONDO:0011035
  • Neurofibromatosis, familial spinal, OMIM:162210
  • Leukemia, juvenile myelomonocytic, OMIM:607785
  • Neurofibromatosis-Noonan syndrome, OMIM:601321
Tags
Green List (high evidence)
PTPN11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 1, OMIM:163950
  • Noonan syndrome 1, MONDO:0008104
Tags
Green List (high evidence)
RB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinoblastoma, OMIM:180200
  • Retinoblastoma, trilateral, OMIM:180200
  • hereditary retinoblastoma, MONDO:0018160
Tags
Green List (high evidence)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
  • Rothmund-Thomson syndrome type 2, MONDO:0016369
Tags
Green List (high evidence)
T
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
  • gene-duplication
  • new-gene-name
Green List (high evidence)
TP53
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer}, OMIM:114500
  • basal cell carcinoma, susceptibility to, 7, MONDO:0013876
  • adrenocortical carcinoma, hereditary, MONDO:0008734
  • {Glioma susceptibility 1}, OMIM:137800
  • nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775
  • Li-Fraumeni syndrome, OMIM:151623
  • Li-Fraumeni syndrome, MONDO:0018875
  • {Basal cell carcinoma 7}, OMIM:614740
  • choroid plexus papilloma, MONDO:0009837
  • {Adrenocortical carcinoma, pediatric}, OMIM:202300
  • {Choroid plexus papilloma}, OMIM:260500
Tags
Green List (high evidence)
WRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Werner syndrome, MONDO:0010196
  • Werner syndrome, OMIM:277700
Tags

Downloads

Download lists

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

Download Version