GDF2

growth differentiation factor 2
OMIM: 605120, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber GDF2 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH NHS GMS Expert Review Amber UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
Green GDF2 in Hereditary haemorrhagic telangiectasia Level 2: Respiratory Version 3.7 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506 telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217
Green GDF2 in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Heritable pulmonary arterial hypertension HPAH
Amber GDF2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Literature Phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506