GDF5

growth differentiation factor 5
OMIM: 601146, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GDF5 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 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 2.0	4 reviews	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 Brachydactyly MONDO:0021004, GDF5-related Acromelic dysplasia MONDO:0019695, GDF5-related 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 1.0	1 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 1.0	3 reviews	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 1.0	0 reviews	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 1.0	1 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 2.0	1 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 3.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia 2A MIM#200700 Acromesomelic dysplasia 2B MIM#228900