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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: IGF1R

Red List (low evidence)

IGF1R (insulin like growth factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 11 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

microcephaly and dysmorphic features, but no documented CSS in syndromic cases. Cunningham et al 2012 report variants associated with isolated single suture CSS: 5 /186 cases with missense variants enriched compared to controls. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Resistance to insulin-like growth factor I

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IGF1R; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

6 Apr 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGF1R were changed from Resistance to insulin-like growth factor I to Insulin-like growth factor I, resistance to, OMIM:270450

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Resistance to insulin-like growth factor I for gene: IGF1R

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: IGF1R was added gene: IGF1R was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IGF1R was set to