Description
This panel contains genes associated with kidney cancer. 

Further information on the testing criteria for kidney cancer can be found at eviQ: 
https://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3889-renal-cancer-panel-testing

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with kidney cancer and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.

This panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

13 Entities

13 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
BAP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • BAP1-related tumor predisposition syndrome, MONDO:0013692
  • BAP1-tumour predisposition syndrome, MIM#614327
Tags
Green Green List (high evidence)
FH
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
  • Leiomyomatosis and renal cell cancer, MIM#150800
Tags
Green Green List (high evidence)
FLCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Birt-Hogg-Dube syndrome 1, MONDO:0800445
  • Birt-Hogg-Dube syndrome, MIM#135150
Tags
Green Green List (high evidence)
MET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Papillary renal cell carcinoma, MONDO:0017884
  • Renal cell carcinoma, papillary, 1, familial, MIM#605074
Tags
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350
Tags
Green Green List (high evidence)
SDHA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Tags
Green Green List (high evidence)
SDHAF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 2, MIM#601650
Tags
Green Green List (high evidence)
SDHB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Tags
Green Green List (high evidence)
SDHC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 3, MIM#605373
Tags
Green Green List (high evidence)
SDHD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Tags
Green Green List (high evidence)
TSC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Tuberous sclerosis 1, MONDO:0008612
  • Tuberous sclerosis-1, MIM#191100
Tags
Green Green List (high evidence)
TSC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Tuberous sclerosis 2, MONDO:0013199
  • Tuberous sclerosis-2, MIM#613254
Tags
Green Green List (high evidence)
VHL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Von Hippel-Lindau disease, MONDO:0008667
  • von Hippel-Lindau syndrome, MIM#193300
  • Pheochromocytoma, susceptibility to, MIM#171300
Tags

Major version comments

Downloads

Download lists

Download Version