Description
There is currently no eligibility statement for this disorder. 

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

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