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  3. GDF2
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Cerebral vascular malformations

Gene: GDF2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three unrelated individuals reported in the original publication. However note the population frequency of the variants is: Arg333Trp 115, Arg68Leu 13, and Pro85Leu 2, which casts doubt over their pathogenicity.
Created: 2 Jul 2020, 5:39 a.m. | Last Modified: 2 Jul 2020, 5:39 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506

Publications

Created: 2 Jul 2020, 5:39 a.m.
Last Modified: 2 Jul 2020, 5:39 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506
OMIM
605120
Clinvar variants
Variants in GDF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf2 has been classified as Red List (Low Evidence).

2 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GDF2 were set to

2 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf2 has been classified as Red List (Low Evidence).

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF2 was added gene: GDF2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted