GDF5

growth differentiation factor 5
OMIM: 601146, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red GDF5 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Green GDF5 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.208
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • 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


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.48
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed

    Green GDF5 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green GDF5 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Du Pan syndrome, 228900
    • Symphalangism, proximal, 1B, 615298
    • Chondrodysplasia, Grebe type, 200700
    • Brachydactyly, type A1, C, 615072
    • ?Acromesomelic dysplasia, Hunter-Thompson type, 201250
    • Multiple synostoses syndrome 2, 610017
    • Brachydactyly, type A2, 112600
    • Brachydactyly, type C, 113100