GDF5

growth differentiation factor 5
OMIM: 601146, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GDF5 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900)
Green GDF5 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Type A1C brachydactyly (MIM#615072) Type A2 brachydactyly, (MIM#112600) Type C brachydactyly (MIM#113100) Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900) Multiple synostoses syndrome 2 (MIM#610017) Proximal Symphalangism 1B (MIM#615298)
Green GDF5 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green GDF5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Chondrodysplasia, Grebe type 200700 Multiple synostoses syndrome 2 610017 Du Pan syndrome 228900 Acromesomelic dysplasia, Hunter-Thompson type 201250 Brachydactyly, type C 113100 Brachydactyly, type A1, C 615072 Symphalangism, proximal, 1B 615298 {Osteoarthritis-5} 612400 Brachydactyly, type A2 112600
Green GDF5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Grebe type, 200700 (3)
Green GDF5 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brachydactyly, type A1, C, MIM# 615072 Brachydactyly, type A2 MIM#112600 Brachydactyly, type C, MIM# 113100 Symphalangism, proximal, 1B, MIM# 615298
Green GDF5 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900)
Green GDF5 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Grebe type, 200700 (3)
Green GDF5 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Grebe type, 200700 (3)