Limb disorders
Gene: GDF5EnsemblGeneIds (GRCh38): ENSG00000125965
EnsemblGeneIds (GRCh37): ENSG00000125965
OMIM: 601146, Gene2Phenotype
GDF5 is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to GDF5. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)GDF5 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)GDF5 was created by Ellen McDonagh