Description
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 (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/521/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (04/03/2020).

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.

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

7 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

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

16 Entities

16 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
BAP1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Tumor predisposition syndrome, OMIM:614327
  • BAP1-related tumor predisposition syndrome, MONDO:0013692
  • Renal cell carcinoma (disease), MONDO:0005086
  • Clear cell renal carcinoma, MONDO:0005005
Tags
Green Green List (high evidence)
FH
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Leiomyomatosis and renal cell cancer, OMIM:150800
  • Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Tags
Green Green List (high evidence)
FLCN
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Birt-Hogg-Dube syndrome, OMIM:135150
  • Renal carcinoma, MONDO:0005206
Tags
Green Green List (high evidence)
MET
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Renal cell carcinoma, papillary, 1, familial and somatic, OMIM:605074
  • Papillary renal cell carcinoma, MONDO:0017884
Tags
Green Green List (high evidence)
SDHB
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • Paragangliomas 4, OMIM:115310
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Green Green List (high evidence)
VHL
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • UKGTN
Phenotypes
  • von Hippel-Lindau syndrome, OMIM:193300
  • von Hippel-Lindau disease, MONDO:0008667
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
CDKN2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
MITF
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
PTEN
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
SDHC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
SDHD
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
Amber Amber List (moderate evidence)
TMEM127
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Renal cell carcinoma (disease), MONDO:0005086
Tags
No list No list
MLH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Removed
Tags
  • curated_removed
No list No list
MSH2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Removed
Tags
  • curated_removed
No list No list
MSH6
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Removed
Tags
  • curated_removed
No list No list
PMS2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert List
  • Expert Review Removed
Tags
  • curated_removed

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