IGF1R

insulin like growth factor 1 receptor
OMIM: 147370, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green IGF1R in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.10

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Insulin-like growth factor I, resistance to 270450

Green IGF1R in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insulin‐likegrowthfactorI,resistanceto,270450
  • Insulin-Like Growth Factor I Resistance

Green IGF1R in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Insulin-like growth factor I, resistance to 270450

Red IGF1R in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.244

Component of the following Super Panels:

  • Paediatric disorders v4.436
  • review Not set
    Sources
    • NHS GMS

    Green IGF1R in Fetal anomalies


    Version 0.352

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

    Red IGF1R in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.0

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Resistance to insulin-like growth factor I

    No list IGF1R in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.0

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green IGF1R in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.436
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450

    Green IGF1R in Growth failure in early childhood


    Version 1.3

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Insulin-Like Growth Factor I Resistance
    • Insulin likegrowthfactorI,resistanceto,270450
    • 15q-Del

    Green IGF1R in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.436
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    • Insulin-like growth factor I, resistance to, 270450
    • developmental delay