Skeletal dysplasia

Gene: GDF5

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, 11:44 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

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GDF5; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 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.

Green List (high evidence)

Tier 1

Created: 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