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Skeletal dysplasia

Gene: GDF5

Green List (high evidence)
GDF5 (growth differentiation factor 5)
EnsemblGeneIds (GRCh38): ENSG00000125965
EnsemblGeneIds (GRCh37): ENSG00000125965
OMIM: 601146, Gene2Phenotype
GDF5 is in 9 panels

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Red List (low evidence)

Only 1 variant in PMID: 33333243 (originally reported in PMID: 8589725)
Created: 11 Mar 2021, 4:41 a.m. | Last Modified: 11 Mar 2021, 4:41 a.m.
Panel Version: 0.6660

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
? Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR

Publications

Created: 11 Mar 2021, 4:41 a.m.
Last Modified: 11 Mar 2021, 4:41 a.m.
Panel version: Imported from Mendeliome panel version 0.6660

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical presentations range from severe defects of limb morphogenesis to mild redundant ossification, likely linked to a continuum of GDF5-activity variation, with loss of GDF5 activity underlying bone development defects, and gain of function causing disorders with excessive bone formation.
Created: 4 Mar 2021, 10:20 p.m. | Last Modified: 4 Mar 2021, 10:20 p.m.
Panel Version: 0.6554

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)

Created: 4 Mar 2021, 10:20 p.m.
Last Modified: 4 Mar 2021, 10:20 p.m.
Panel version: Imported from Mendeliome panel version 0.6554

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR - only 1 variant in Genovesi 2021 figure 3

brachydactyly spectrum and Grebe type chondrodysplasia are associated with LoF while Du Pan syndrome, Multiple synostoses syndrome and Proximal Symphalangism are asosciated with GoF.

Only missense variants have been reported for Du Pan syndrome, Multiple synostoses syndrome and Proximal Symphalangism, which tend to cluster in the C-terminus, mostly in the active domain
Created: 4 Mar 2021, 12:54 a.m. | Last Modified: 4 Mar 2021, 12:54 a.m.
Panel Version: 0.6539

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)

Publications

Created: 4 Mar 2021, 12:54 a.m.
Last Modified: 4 Mar 2021, 12:54 a.m.
Panel version: Imported from Mendeliome panel version 0.6539

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrodysplasia, Grebe type 200700
  • Multiple synostoses syndrome 2 610017
  • Du Pan syndrome 228900
  • Acromesomelic dysplasia, Hunter-Thompson type 201250
  • Brachydactyly, type C 113100
  • Brachydactyly, type A1, C 615072
  • Symphalangism, proximal, 1B 615298
  • {Osteoarthritis-5} 612400
  • Brachydactyly, type A2 112600
OMIM
601146
Clinvar variants
Variants in GDF5
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF5 was added gene: GDF5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type 200700; Multiple synostoses syndrome 2 610017; Du Pan syndrome 228900; Acromesomelic dysplasia, Hunter-Thompson type 201250; Brachydactyly, type C 113100; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; {Osteoarthritis-5} 612400; Brachydactyly, type A2 112600