GDF5

growth differentiation factor 5
OMIM: 601146
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE C 113100, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700, ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250, DU PAN SYNDROME 228900, SYMPHALANGISM PROXIMAL SYNDROME 185800, BRACHYDACTYLY TYPE A1 112500, BRACHYDACTYLY TYPE A2 112600, MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE C, SYMPHALANGISM PROXIMAL SYNDROME, DU PAN SYNDROME, BRACHYDACTYLY TYPE A1, ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, BRACHYDACTYLY TYPE A2, MULTIPLE SYNOSTOSES SYNDROME TYPE 2
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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, Polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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