Description
The green genes on this panel will be reported as part of pertinent germline findings for the Cancer Programme. Germline variants are reported back to patients based on their tumour type. 

This is a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed by some members of The Inherited Cancer Predisposition (InCaP) Genomics England Clinical Interpretation Partnership (GeCIP) domain and submitted by Clare Turnbull (Queen Mary University).

Update 14th May 2018:
The following additional Green genes were added:
- MTAP
- PDGFRA
- RECQL4
- SQSTM1 
- T (Brachyury, TBXT)

TNFRSF11A was added as red due to limited evidence to date for a direct link between this gene and osteosarcoma.

Update 13th March 2019:
Additional genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). Reviews from these panels were transferred accross.

8 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

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

29 Entities

29 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
29 Entitiess
Green Green List (high evidence)
MTAP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • UPS of bone
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Tags
Green Green List (high evidence)
PDGFRA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic 606764
Tags
Green Green List (high evidence)
RECQL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes
  • Osteosarcoma
Tags
Green Green List (high evidence)
SQSTM1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Paget disease of bone 3 167250
  • Osteosarcoma
Tags
Green Green List (high evidence)
T
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Chordoma
  • Chordoma
Tags
  • cnvs
  • new-gene-name
Green Green List (high evidence)
TP53
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sarcoma
Tags
Amber Amber List (moderate evidence)
BUB1B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Tags
Amber Amber List (moderate evidence)
CDKN1C
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
Tags
Amber Amber List (moderate evidence)
HRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Costello syndrome, 218040
Tags
Amber Amber List (moderate evidence)
KIT
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MLH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Amber Amber List (moderate evidence)
MSH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Amber Amber List (moderate evidence)
MSH6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Amber Amber List (moderate evidence)
NBN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nijmegen breakage syndrome, 251260
Tags
Amber Amber List (moderate evidence)
NF1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Red
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 162200
Tags
Amber Amber List (moderate evidence)
PMS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Tags
Amber Amber List (moderate evidence)
RB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinoblastoma, 180200
Tags
Amber Amber List (moderate evidence)
SDHA
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SDHB
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SDHC
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SDHD
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
Tags
Red Red List (low evidence)
CREBBP
2 reviews
2 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
2 reviews
2 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
2 reviews
2 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
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nevus, Epidermal 162900
Tags
Red Red List (low evidence)
PAX3
2 reviews
2 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
2 reviews
2 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)
TNFRSF11A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Paget disease of bone
  • Polyostotic osteolytic dysplasia (hereditary expansile)
  • Osteosarcoma
Tags
Red Red List (low evidence)
WT1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Wilms tumour 1, 194070
Tags

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