Familial and multiple pulmonary arteriovenous malformations
Gene: GDF2Comment when marking as ready: Phenotype not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 2:19 p.m.
Pulmonary AVMs are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT) and three unrelated cases clinically suspected to have hereditary haemorrhagic telangiectasia (HHT), were found to have GDF2 missense substitutions (PMID: 23972370). None of these cases had pulmonary AVMs.Created: 13 Nov 2016, 11:07 p.m.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for GDF2 were set to 23972370
GDF2 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
GDF2All sources for gene: GDF2 were removed
GDF2 was created by ellenmcdonagh
GDF2 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory