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  2. Multiple lipomas

Multiple lipomas (Version 1.2)


Panel types: Rare Disease 100K
Previous code: 5763f2ea8f620350a1996048
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This panel is NO LONGER ACTIVELY MAINTAINED.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.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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There is currently no eligibility statement for this disorder.
Panel Activity

1 reviewer

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

4 Entities

4 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green List (high evidence)
MT-TK
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple symmetric lipomatosis
Tags
  • gene-checked
  • locus-type-rna-transfer
Red List (low evidence)
EGFR
1 review
Other - please specifiy in evaluation comments
Sources
  • Literature
Phenotypes
  • Fibrous hamartoma of infancy (FHI)
Tags
Red List (low evidence)
HMGA2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • myolipoma of soft tissue
Tags
Red List (low evidence)
MDM2
1 review
Other - please specifiy in evaluation comments
Sources
  • Literature
Tags
  • gene-duplication

Major version comments

  • 14/Dec/2016: panel reviewed internally and promoted to version 1.

Downloads

Download lists

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

Download Version