ClinGen Dosage Sensitivity Curation Page
GDF5
- Curation Status: Complete
- id: ISCA-6296
- Date last evaluated: 2012-04-26
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about GDF5 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/8200
- OMIM: https://omim.org/entry/601146
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.923
Select assembly:
(NC_000020.10)
(NC_000020.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: BRACHYDACTYLY, TYPE C; BDC
| PubMed ID | Description |
|---|---|
| 12567410 | Savarirayan et al. (2003) identified a heterozygous 1-bp insertion in the GDF5 gene, 206insG, in 8 members of 3 unrelated families with type C brachydactyly. This mutation results in a frameshift and premature termination 25 amino acids downstream. The change was not detected in 100 control alleles. |
| 9288091 | Polinkovsky et al. (1997) identified a heterozygous C-to-T transition at nucleotide 901 of the GDF5 mRNA coding sequence in affected members of a family with brachydactyly type C. The mutation results in a R301X substitution. |
| 18283415 | Yang et al (2008) identified a T-to-G transversion in GDF5 in a 4 generation family with brachydactyly type C. The mutation was not detected in unaffected family members or 50 controls. The mutation results in a Y487X substitution that is predicted to truncate the precursor polypeptide by 15 amino acids. |
Haploinsufficiency phenotype comments:
The loss evidence listed above and the haploinsufficiency score is based only on the phenotype of brachydactyly type C; however, please note that mutations of GDF5 are associated with additional phenotypes (see OMIM IDs 201250, 112600, 200700, 228900, 610017, 185800, 612400).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity