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).

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

3 Entities

3 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green Green List (high evidence)
BAP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Tags
Green Green List (high evidence)
CDK4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Malignant Melanoma
Tags
Green Green List (high evidence)
CDKN2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, OMIM:155601
  • {Melanoma and neural system tumor syndrome}, OMIM:155755
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Tags

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