GDF5 Chromosome 20
Growth differentiation factor 5
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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. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Transforming growth factor beta superfamily"
Locus Type
gene with protein product
Location
20q11.22
Ensembl
ENSG00000125965
Associated Conditions (15)
Inborn genetic diseases
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C
Hunter-Thompson type
Brachydactyly
Grebe syndrome
Acromesomelic dysplasia 2B
GDF5-related disorder
9 conditions
Brachydactyly type A1C
Brachydactyly type C
Symphalangism
proximal
1B
Type A2 brachydactyly
Key Variants
RS144074930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144924248
Conflicting classifications of pathogenicity
Multiple synostoses syndrome 2, Acromesomelic dysplasia 2C, Hunter-Thompson type
Health Risk
RS149593773
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 2B, Grebe syndrome, Multiple synostoses syndrome 2
Health Risk
RS150833046
Conflicting classifications of pathogenicity
Grebe syndrome, Brachydactyly, Multiple synostoses syndrome 2
Health Risk
RS199666386
Conflicting classifications of pathogenicity
Multiple synostoses syndrome 2, Acromesomelic dysplasia 2B, Brachydactyly
Health Risk
RS200445104
Conflicting classifications of pathogenicity
GDF5-related disorder, Inborn genetic diseases, GDF5-related disorder
Health Risk
RS2146578225
Conflicting classifications of pathogenicity
GDF5-related disorder, 9 conditions, GDF5-related disorder
Health Risk
RS542574339
Conflicting classifications of pathogenicity
Grebe syndrome, Acromesomelic dysplasia 2C, Hunter-Thompson type
Health Risk
RS746980493
Conflicting classifications of pathogenicity
Grebe syndrome, Acromesomelic dysplasia 2B, Brachydactyly
Health Risk
RS748907807
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 2C, Hunter-Thompson type, Grebe syndrome
Health Risk
RS752789551
Conflicting classifications of pathogenicity
Grebe syndrome, Brachydactyly, Acromesomelic dysplasia 2C
Health Risk
RS768697784
Conflicting classifications of pathogenicity
Grebe syndrome, Acromesomelic dysplasia 2C, Hunter-Thompson type
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144074930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144924248 | Health Risk | Conflicting classifications of pathogenicity | Multiple synostoses syndrome 2, Acromesomelic dysplasia 2C, Hunter-Thompson type |
| RS149593773 | Health Risk | Conflicting classifications of pathogenicity | Acromesomelic dysplasia 2B, Grebe syndrome, Multiple synostoses syndrome 2 |
| RS150833046 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Brachydactyly, Multiple synostoses syndrome 2 |
| RS199666386 | Health Risk | Conflicting classifications of pathogenicity | Multiple synostoses syndrome 2, Acromesomelic dysplasia 2B, Brachydactyly |
| RS200445104 | Health Risk | Conflicting classifications of pathogenicity | GDF5-related disorder, Inborn genetic diseases, GDF5-related disorder |
| RS2146578225 | Health Risk | Conflicting classifications of pathogenicity | GDF5-related disorder, 9 conditions, GDF5-related disorder |
| RS542574339 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Acromesomelic dysplasia 2C, Hunter-Thompson type |
| RS746980493 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Acromesomelic dysplasia 2B, Brachydactyly |
| RS748907807 | Health Risk | Conflicting classifications of pathogenicity | Acromesomelic dysplasia 2C, Hunter-Thompson type, Grebe syndrome |
| RS752789551 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Brachydactyly, Acromesomelic dysplasia 2C |
| RS768697784 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Acromesomelic dysplasia 2C, Hunter-Thompson type |
| RS770458453 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776415223 | Health Risk | Conflicting classifications of pathogenicity | Grebe syndrome, Brachydactyly, Acromesomelic dysplasia 2C |
| RS74315387 | Health Risk | Likely pathogenic | Grebe syndrome, Brachydactyly type A1C, Grebe syndrome |
| RS886039878 | Health Risk | Likely pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS886042958 | Health Risk | Likely pathogenic | Grebe syndrome, Grebe syndrome |
| RS906176970 | Health Risk | Likely pathogenic | — |
| RS121909347 | Health Risk | Pathogenic | Multiple synostoses syndrome 2, Multiple synostoses syndrome 2 |
| RS121909348 | Health Risk | Pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS121909349 | Health Risk | Pathogenic | Symphalangism, proximal, 1B |
| RS121909350 | Health Risk | Pathogenic | Acromesomelic dysplasia 2B, Acromesomelic dysplasia 2B |
| RS121909351 | Health Risk | Pathogenic | Acromesomelic dysplasia 2B, Acromesomelic dysplasia 2B |
| RS1368882599 | Health Risk | Pathogenic | — |
| RS2062455934 | Health Risk | Pathogenic | — |
| RS2062463484 | Health Risk | Pathogenic | — |
| RS2062480958 | Health Risk | Pathogenic | — |
| RS2146578516 | Health Risk | Pathogenic | — |
| RS2146579283 | Health Risk | Pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS2146582931 | Health Risk | Pathogenic | Grebe syndrome, Grebe syndrome |
| RS2146583022 | Health Risk | Pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS2515419697 | Health Risk | Pathogenic | — |
| RS2515426073 | Health Risk | Pathogenic | — |
| RS2515426768 | Health Risk | Pathogenic | — |
| RS2515427372 | Health Risk | Pathogenic | — |
| RS2515427481 | Health Risk | Pathogenic | — |
| RS28936397 | Health Risk | Pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS28936683 | Health Risk | Pathogenic | Acromesomelic dysplasia 2B, Type A2 brachydactyly, Symphalangism |
| RS397514519 | Health Risk | Pathogenic | Brachydactyly type A1C, Brachydactyly type A1C |
| RS74315388 | Health Risk | Pathogenic | Symphalangism, proximal, 1B |
| RS74315389 | Health Risk | Pathogenic | Symphalangism, proximal, 1B |
| RS753691079 | Health Risk | Pathogenic | Brachydactyly type C, Brachydactyly type C |
| RS761962752 | Health Risk | Pathogenic | Grebe syndrome, Grebe syndrome |
| RS762071973 | Health Risk | Pathogenic | — |
| RS778834209 | Health Risk | Pathogenic | GDF5-related disorder, GDF5-related disorder |
| RS879153644 | Health Risk | Pathogenic | — |
| RS1194065564 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1464028021 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS146968459 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1568731526 | Health Risk | Pathogenic/Likely pathogenic | Grebe syndrome, Grebe syndrome |