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 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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 1.26

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 1.50

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
  • 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 1.192

review Not set
Sources
  • NHS GMS

Green IGF1R in Fetal anomalies


Version 0.306

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 1.123

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 1.51

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

Green IGF1R in DDG2P


Version 1.78

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 0.62

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 2.968

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