GDF2

growth differentiation factor 2
OMIM: 605120, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber GDF2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.8
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory

Amber GDF2 in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 615506

Green GDF2 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 2.9
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH

No list GDF2 in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

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