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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. GDF5
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GMS Musculoskeletal specialist test group 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 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

acromesomelic dysplasias, brachydactylies (without extraskeletal manifestations) gp of SD, Defects in joint formation and synostoses gp of SD. Several cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

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

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: GDF5 was added gene: GDF5 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to Brachydactyly, type C 113100; Acromesomelic dysplasia, Hunter-Thompson type 201250; Du Pan syndrome 228900; {Osteoarthritis-5} 612400; Chondrodysplasia, Grebe type 200700; Brachydactyly, type A2 112600; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; Multiple synostoses syndrome 2 610017