GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GDF5
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 LesterCreated: 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
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