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.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

7 Entities

7 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
7 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
1 review
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sarcoma
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

Major version comments

Downloads

Download lists

Download Version