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  2. IUGR and IGF abnormalities
  3. IGF1R
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IUGR and IGF abnormalities

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

3 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Found in ~10% of SGA children with failure of catch-up
Created: 22 Oct 2015, 2:49 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
IUGR; SGA; severe short stature

Publications

Created: 22 Oct 2015, 2:49 p.m.

Panel version: 0

Details

Mode of Inheritance
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-like growth factor I, resistance to, OMIM:270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGF1R were changed from Insulin‐likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance to Insulin-like growth factor I, resistance to, OMIM:270450

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for IGF1R was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

IGF1R was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

IGF1R was added to IUGR and IGF abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

IGF1R was added to IUGR and IGF abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen