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
Latest signed off version: v2.2 (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
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert Review
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Latest signed off version: v2.2 (2 Mar 2020)

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

Red GDF2 in Fetal anomalies


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

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