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DDG2P

Gene: IGF1R

Green List (high evidence)

IGF1R (insulin like growth factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 for gene: IGF1R

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: IGF1R was added gene: IGF1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGF1R were set to 14657428 Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450