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 and submitted by Clare Turnbull (Queen Mary University). This is a list of genes to be reported as part of pertinent germline findings for the Cancer Programme.

1 reviewer

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

5 Entities

2 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
CDKN1B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thyroid cancer
  • Pituitary adenoma
Tags
Green Green List (high evidence)
PRKAR1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carney complex
  • Myxoma (cardiac or cutaneous or breast)
Tags
Green Green List (high evidence)
PTEN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cowden Syndrome
  • PTEN hamartoma tumor syndrome
  • Breast cancer
  • Thyroid cancer
  • Endometrial cancer
Tags
Green Green List (high evidence)
RET
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia 2A and 2B
  • Medullary thyroid cancer
  • Pheochromocytoma
Tags
Green Green List (high evidence)
WRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Werner syndrome
  • Sarcoma
  • Melanoma
  • Thyroid cancer
Tags

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