Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R224 Inherited renal cancer' 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 'R224 Inherited renal cancer'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

5 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

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

16 Entities

16 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
BAP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Malignant mesothelioma after asbestos exposure
  • Uveal melanoma
  • Cutaneous melanoma
  • Meningioma
  • Renal cell carcinoma, usually clear cell type
Tags
Green Green List (high evidence)
FH
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Uterine leiomyosarcoma (less common)
  • Cutaneous leiomyosarcoma (less common)
  • Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Tags
Green Green List (high evidence)
FLCN
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Renal carcinoma
  • Parotid oncocytomas
  • Neural tissue tumors
  • Lipomas
  • Angiolipomas
Tags
Green Green List (high evidence)
MET
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • hereditary papillary renal carcinoma with type 1 papillary tumors
Tags
Green Green List (high evidence)
PTEN
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
SDHB
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cowden syndrome 2
  • Gastrointestinal stromal tumor
  • Paraganglioma and gastric stromal sarcoma
  • Paragangliomas 4
  • Pheochromocytoma.
Tags
Green Green List (high evidence)
VHL
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Renal hemangioblastoma
  • Renal cell carcinoma
  • Multiple renal cysts
  • Pheochromocytoma
  • Sporadic cerebellar hemangioblastoma
  • Hypernephroma
  • Pancreatic cancer
  • Paraganglioma
  • Adenocarcinoma of ampulla of Vater
Tags
Amber Amber List (moderate evidence)
CDKN2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Tags
Amber Amber List (moderate evidence)
MITF
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Tags
Amber Amber List (moderate evidence)
SDHC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Tags
Amber Amber List (moderate evidence)
SDHD
2 reviews
1 green
Other
Sources
  • Expert Review Amber
  • UKGTN
Tags
Amber Amber List (moderate evidence)
TMEM127
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Tags
No list No list
MLH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Removed
  • Expert list
Tags
No list No list
MSH2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Removed
  • Expert list
Tags
No list No list
MSH6
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Removed
  • Expert list
Tags
No list No list
PMS2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Removed
  • Expert list
Tags

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