Description
This is the list of genes for reporting back additional findings according to the Annex No.1 document.
Panel Activity

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

14 Entities

14 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
APC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Familial Adenomatous Polyposis
  • Adult and child
Tags
Green Green List (high evidence)
APOB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
BRCA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
  • Breast and ovarian cancer predisposition
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
BRCA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • {Breast cancer, male, susceptibility to}, OMIM:114480
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
LDLR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
MEN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 1
  • Adult and child
Tags
Green Green List (high evidence)
MLH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MUTYH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Bowel cancer predisposition
  • MYH-associated polyposis
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
PCSK9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
RET
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 2
  • Adult and child
Tags
Green Green List (high evidence)
VHL
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Other cancer predisposition
  • Von Hippel Lindau Syndrome
  • Adult and child
Tags
No list No list
CFTR
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Removed
Phenotypes
  • ENST00000003084.10
  • Carrier status
  • Cystic Fibrosis
  • Adult-only
Tags
  • adult-onset
  • curated_removed

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