GDF2

growth differentiation factor 2
OMIM: 605120, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red GDF2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic dysplasia
  • hydrothorax
  • hydrops

Green GDF2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506
  • pulmonary arteriovenous malformations

Green GDF2 in Hereditary Haemorrhagic Telangiectasia


Level 2: Vascular disorders
Version 1.5

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
  • pulmonary arteriovenous malformations

Green GDF2 in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.11

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 5 615506
    • pulmonary arteriovenous malformations

    Green GDF2 in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
    • Pulmonary arterial hypertension

    Red GDF2 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506

    Red GDF2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • hydrops
    • hydrothorax
    • Lymphatic dysplasia