Description
This panel lists health related additional finding genes applicable to adults AND children.  

This panel is a component of a superpanel which lists all additional findings genes applicable to adults (panel #933).

There is another panel for additional finding genes applicable to adults only (panel #929).

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

7 Entities

0 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 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)
APOB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
LDLR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
MEN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Adult and child
  • Myltiple endocrine Neoplasia Type 1
Tags
Green Green List (high evidence)
PCSK9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Adult and child
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
RET
0 reviews
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Other cancer predisposition
  • Von Hippel Lindau Syndrome
  • Adult and child
Tags

Major version comments

Downloads