IGF1R

insulin like growth factor 1 receptor
OMIM: 147370, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green IGF1R in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM# 270450

Green IGF1R in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM# 270450

Green IGF1R in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM# 270450

Green IGF1R 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
  • Insulin-like growth factor I, resistance to, 270450 (3)

Green IGF1R in Growth failure


Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM # 270450

Green IGF1R in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM# 270450

Green IGF1R in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Insulin-like growth factor I, resistance to, 270450 (3)