Description
This super panel lists all the health related additional finding genes for adults in which overlapping copy number variants (CNV) will be looked for. 

For further information about additional findings see https://www.genomicsengland.co.uk/information-for-participants/findings/.

10 Entities

0 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
APC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Adenomatous Polyposis
  • Adult and child
  • Bowel cancer predisposition
Tags
Green Green List (high evidence)
BRCA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 1}, OMIM:604370
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
BRCA2
0 reviews
 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
0 reviews
 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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myltiple endocrine Neoplasia Type 1
  • Other cancer predisposition
  • Adult and child
Tags
Green Green List (high evidence)
MLH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Tags
  • adult-onset
Green Green List (high evidence)
MSH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Tags
  • adult-onset
Green Green List (high evidence)
MSH6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Tags
  • adult-onset
Green Green List (high evidence)
MUTYH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Adult only
  • Bowel cancer predisposition
  • MYH-associated polyposis
Tags
  • adult-onset
Green Green List (high evidence)
VHL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Von Hippel Lindau Syndrome
  • Other cancer predisposition
  • Adult and child
Tags

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