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  3. GDF2
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Hydrops fetalis

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)

Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Created: 14 Aug 2020, 10:11 a.m. | Last Modified: 14 Aug 2020, 10:21 a.m.
Panel Version: 0.163

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphatic dysplasia; hydrothorax; hydrops

Publications

Created: 14 Aug 2020, 10:11 a.m.
Last Modified: 14 Aug 2020, 10:21 a.m.
Panel version: 0.163

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic dysplasia
  • hydrothorax
  • hydrops
OMIM
605120
Clinvar variants
Variants in GDF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 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).

14 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF2 was added gene: GDF2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED