Description
Familial rhabdomyosarcoma or sarcoma inclusion criteria 
- Proband is affected by rhabdomyosarcoma or sarcoma 
- >= 1 family member (FDR, SDR, TDR) affected by rhabdomyosarcoma or sarcoma (any age). Sample should be sought if patient alive 

Unaffected individuals should not be recruited in this disorder. Recruitment should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs. 

Familial rhabdomyosarcoma or sarcoma exclusion criteria 

Prior genetic testing guidance 
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. 

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. 

Familial rhabdomyosarcoma or sarcoma prior genetic testing genes 
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: 
- TP53 

Closing statement 
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

2 reviewers

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

18 Entities

18 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
BUB1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Tags
Green Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Costello syndrome, 218040
Tags
Green Green List (high evidence)
MLH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
MSH6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
NBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nijmegen breakage syndrome, 251260
Tags
Green Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 162200
Tags
Green Green List (high evidence)
PMS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Green Green List (high evidence)
RB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinoblastoma, 180200
Tags
Green Green List (high evidence)
TP53
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome, 151623
Tags
Red Red List (low evidence)
CREBBP
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
Tags
Red Red List (low evidence)
DICER1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
Tags
Red Red List (low evidence)
FOXO1
1 review
1 red 		Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
Tags
Red Red List (low evidence)
KRAS
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nevus, Epidermal 162900
Tags
Red Red List (low evidence)
PAX3
1 review
1 red 		Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
Tags
Red Red List (low evidence)
PAX7
1 review
1 red 		Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma 2, alveolar, 268220
Tags
Red Red List (low evidence)
WT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Wilms tumour 1, 194070
Tags

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