1. Panels
  2. Additional findings health related - children

Additional findings health related - children (Version 1.1)


Panel types: Component Of Super Panel, Additional Findings
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

-----

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/.
Panel Activity

7 Entities

0 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
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 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 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 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 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 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 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

  • 2021-04-07 10:23 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
    Panel content including transcript values checked and then promoted to version 1.0

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version