Description
This panel lists health related additional finding genes applicable to adults only, in which overlapping copy number variants (CNV) will be looked for.  Only genes where the mode of pathogenicity is expected to be by loss of function are included on this panel. 

This panel is a component of a superpanel which lists all additional findings genes for CNV analysis genes applicable to adults (panel #934).

There is another panel for additional finding CNV analysis genes applicable to adults AND children (panel #932).

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

6 Entities

0 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green Green List (high evidence)
BRCA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adult only
  • Breast and ovarian cancer predisposition
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
  • Adult only
  • Breast and ovarian cancer predisposition
Tags
  • adult-onset
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
  • Expert Review Green
  • Other
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
  • Expert Review Green
  • Other
Phenotypes
  • Adult only
  • Bowel cancer predisposition
  • MYH-associated polyposis
Tags
  • adult-onset

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