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  2. Familial and multiple pulmonary arteriovenous malformations
  3. GDF2
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Familial and multiple pulmonary arteriovenous malformations

Gene: GDF2

Red List (low evidence)
GDF2 (growth differentiation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000263761
EnsemblGeneIds (GRCh37): ENSG00000128802
OMIM: 605120, Gene2Phenotype
GDF2 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.
Created: 13 Dec 2016, 2:19 p.m.

Panel version: 0.41

Claire Shovlin (Imperial College London)

Red List (low evidence)

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.
Created: 13 Nov 2016, 11:07 p.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
OMIM
605120
Clinvar variants
Variants in GDF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GDF2 were set to 23972370

13 Dec 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

GDF2 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

13 Dec 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506

13 Dec 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

GDF2All sources for gene: GDF2 were removed

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GDF2 was created by ellenmcdonagh

19 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GDF2 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory