IGF1R

insulin like growth factor 1 receptor
OMIM: 147370
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
R-numbers: R147
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Insulin-Like Growth Factor I Resistance, Insulin likegrowthfactorI,resistanceto,270450, 15q-Del
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gene2Phenotype confirmed gene with ID HPO, Insulin-like growth factor I, resistance to, 270450, developmental delay
R-numbers: R88
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Insulin-like growth factor I, resistance to 270450