Limb disorders
Gene: GDF5
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 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.
Tier 1Created: 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
Ana Beleza: Tier 1
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
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
London South East RGC GSTT was added to GDF5. Panel: Limb disorders
GDF5 was added to Limb disorders panel. Sources: Viapath
GDF5 was created by Ellen McDonagh