Description
This super panel lists all the health related additional findings genes for adults. 

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

13 Entities

0 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
APC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Adenomatous Polyposis
  • Adult and child
  • Bowel cancer predisposition
Tags
Green Green List (high evidence)
APOB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
BRCA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
MEN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Other cancer predisposition
  • Adult and child
  • Myltiple endocrine Neoplasia Type 1
Tags
Green Green List (high evidence)
MLH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH6
0 reviews
 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
0 reviews
 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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
RET
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 2
  • Adult and child
Tags
Green Green List (high evidence)
VHL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Von Hippel Lindau Syndrome
  • Adult and child
Tags

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