Description
This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.

If a germline disorder is suspected, please use the Vascular Malformations_Germline panel.

2 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

  • Chris Richmond (Genetic Health Queensland)

5 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
BRAF
1 review
1 green
Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sporadic vascular malformations
Tags
  • somatic
Green Green List (high evidence)
ENG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Tags
Green Green List (high evidence)
GJA4
1 review
1 green
Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cavernous hemangioma
Tags
  • somatic
Green Green List (high evidence)
GLMN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Glomuvenous malformations (138000)
Tags
Green Green List (high evidence)
GNA11
1 review
1 green
Other
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Somatic hemangioma
  • Phacomatosis pigmentovascularis, somatic
Tags
  • somatic

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