GDF1 Chromosome 19
Growth differentiation factor 1
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What This Gene Does
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000130283
Associated Conditions (11)
Tetralogy of Fallot
GDF1-related disorder
Inborn genetic diseases
Right atrial isomerism
Congenital heart defects
multiple types
6
Visceral heterotaxy
Heterotaxy
Heart
malformation of
Key Variants
RS121434424
Conflicting classifications of pathogenicity
Tetralogy of Fallot, GDF1-related disorder, Tetralogy of Fallot
Health Risk
RS1417119878
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370986101
Conflicting classifications of pathogenicity
Health Risk
RS765449212
Conflicting classifications of pathogenicity
Health Risk
RS864622513
Conflicting classifications of pathogenicity
GDF1-related disorder, GDF1-related disorder
Health Risk
RS944730356
Conflicting classifications of pathogenicity
Health Risk
RS1057524707
Likely pathogenic
Health Risk
RS1064793136
Likely pathogenic
Health Risk
RS1064793138
Likely pathogenic
Health Risk
RS1555702261
Likely pathogenic
Right atrial isomerism, Right atrial isomerism
Health Risk
RS2055908725
Likely pathogenic
Health Risk
RS2145983859
Likely pathogenic
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434424 | Health Risk | Conflicting classifications of pathogenicity | Tetralogy of Fallot, GDF1-related disorder, Tetralogy of Fallot |
| RS1417119878 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370986101 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765449212 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS864622513 | Health Risk | Conflicting classifications of pathogenicity | GDF1-related disorder, GDF1-related disorder |
| RS944730356 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057524707 | Health Risk | Likely pathogenic | — |
| RS1064793136 | Health Risk | Likely pathogenic | — |
| RS1064793138 | Health Risk | Likely pathogenic | — |
| RS1555702261 | Health Risk | Likely pathogenic | Right atrial isomerism, Right atrial isomerism |
| RS2055908725 | Health Risk | Likely pathogenic | — |
| RS2145983859 | Health Risk | Likely pathogenic | — |
| RS2512952981 | Health Risk | Likely pathogenic | — |
| RS900625437 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 6 |
| RS1009289636 | Health Risk | Pathogenic | — |
| RS1213194580 | Health Risk | Pathogenic | — |
| RS1466604623 | Health Risk | Pathogenic | — |
| RS1487660277 | Health Risk | Pathogenic | — |
| RS1601143502 | Health Risk | Pathogenic | Visceral heterotaxy, Visceral heterotaxy |
| RS2055909070 | Health Risk | Pathogenic | — |
| RS2055936732 | Health Risk | Pathogenic | — |
| RS2145989089 | Health Risk | Pathogenic | — |
| RS753643819 | Health Risk | Pathogenic | Right atrial isomerism, Right atrial isomerism |
| RS938987727 | Health Risk | Pathogenic | — |
| RS1359321518 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Heterotaxy, Right atrial isomerism |
| RS374016704 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 6 |
| RS606231383 | Health Risk | Pathogenic/Likely pathogenic | Right atrial isomerism, Congenital heart defects, multiple types |
| RS768027510 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 6 |