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Limb disorders

Gene: GDF5

Green List (high evidence)

GDF5 (growth differentiation factor 5)
EnsemblGeneIds (GRCh38): ENSG00000125965
EnsemblGeneIds (GRCh37): ENSG00000125965
OMIM: 601146, Gene2Phenotype
GDF5 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:35 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 7:47 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Acromesomelic dysplasia, Hunter-Thompson type 201250; Brachydactyly, type A1, C 615072; Brachydactyly, type A2 112600; Brachydactyly, type C 113100; Chondrodysplasia, Grebe type 200700; Du Pan syndrome 228900; Multiple synostoses syndrome 2 610017; Symphalangism, proximal, 1B 615298 ; {Osteoarthritis-5} 612400

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GDF5. Panel: Limb disorders Phenotypes for gene GDF5 were set to Acromesomelic dysplasia, Hunter-Thompson type 201250, Brachydactyly, type A1, C 615072, Brachydactyly, type A2 112600, Brachydactyly, type C 113100, Chondrodysplasia, Grebe type 200700, Du Pan syndrome 228900, Multiple synostoses syndrome 2 610017, Symphalangism, proximal, 1B 615298, {Osteoarthritis-5} 612400, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GDF5. Panel: Limb disorders UKGTN was added to GDF5. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to GDF5. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to GDF5. Panel: Limb disorders Expert list was added to GDF5. Panel: Limb disorders Emory Genetics Laboratory was added to GDF5. Panel: Limb disorders Model of inheritance for gene GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to GDF5. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GDF5 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GDF5 was created by Ellen McDonagh