1. Panels
  2. Pulmonary Arterial Hypertension
  3. GDF2
STRs in panel
Prev Next
Regions in panel
Prev Next

Pulmonary Arterial Hypertension

Gene: GDF2

Green List (high evidence)
GDF2 (growth differentiation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000263761
EnsemblGeneIds (GRCh37): ENSG00000128802
OMIM: 605120, Gene2Phenotype
GDF2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 5:20 a.m. | Last Modified: 8 Aug 2023, 5:20 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension

Created: 8 Aug 2023, 5:20 a.m.
Last Modified: 8 Aug 2023, 5:20 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One frameshift variant and seven missense variants GDF2 found in PAH cases. Functional assays demonstrated impaired cellular processing and reduced secretion of mature GDF2 (BMP9).
Created: 28 Jan 2020, midnight | Last Modified: 28 Jan 2020, midnight
Panel Version: 0.23

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, midnight
Last Modified: 28 Jan 2020, midnight
Panel version: 0.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
  • Pulmonary arterial hypertension
OMIM
605120
Clinvar variants
Variants in GDF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf2 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506 to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GDF2 were set to

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf2 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GDF2 was added gene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506