Description
This panel lists health related additional finding genes applicable to adults AND children 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 only (panel #931).

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

4 Entities

0 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
4 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)
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)
VHL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Von Hippel Lindau Syndrome
  • Other cancer predisposition
  • Adult and child
Tags

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