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Parathyroid Cancer (Version 1.5)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Panel types: Rare Disease 100K
Previous code: 55d3196022c1fc313273e328
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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Parathyroid Cancer eligibility statement:

Parathyroid Cancer inclusion criteria (30612)
- proband affected by parathyroid carcinoma (age <60)  
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.

Parathyroid Cancer exclusion criteria (30612)

Prior genetic testing guidance (30612)
- 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.

Parathyroid cancer prior genetic testing genes (30612)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
CDC73

Closing statement (30612)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

3 reviewers

  • Katie Snape (South London GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise IZATT (GSTT Clinical Genetics Service)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

7 Entities

7 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green List (high evidence)
CDC73
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperparathyroidism, familial primary, 145000
  • Hyperparathyroidism-jaw tumor syndrome, 145001
  • Parathyroid adenoma with cystic changes, 145001
  • Parathyroid carcinoma, 608266
  • Parathyroid Carcinoma
  • Pituitary Cancer, Parathyroid and Hypercalcemia
  • Parathyroid Cancer
Tags
Green List (high evidence)
MEN1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia 1, 131100
  • Carcinoid tumor of lung
  • Parathyroid adenoma, somatic
  • Lipoma, somatic
  • Angiofibroma, somatic
  • Adrenal adenoma, somatic
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags
Red List (low evidence)
AIP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags
Red List (low evidence)
CASR
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags
Red List (low evidence)
CDKN1B
2 reviews
2 red
Not set
Sources
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags
Red List (low evidence)
PRKAR1A
2 reviews
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags
Red List (low evidence)
RET
1 review
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Tags

Major version comments

  • Ready to promote

Downloads

Download lists

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

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