GDF5

growth differentiation factor 5
OMIM: 601146, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red GDF5 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green GDF5 in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Green GDF5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert list 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
Green GDF5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green 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
No list GDF5 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green GDF5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green 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
Red GDF5 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acromesomelic dysplasia, Hunter-Thompson type, 201250 Brachydactyly, type C, 113100 Chondrodysplasia, Grebe type, 200700 Du Pan syndrome, 228900 Brachydactyly, type A2, 112600 Symphalangism, proximal, 1B, 615298 Multiple synostoses syndrome 2, 610017 {Osteoarthritis-5}, 612400 Brachydactyly, type A1, C, 615072