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Skeletal dysplasia

Gene: IGF1R

No list

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)

Green List (high evidence)

intrauterine growth retardation and postnatal growth failue - ?SD. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Suggested by Rhoda Akilapa for removal. Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that there is no major skeletal involvement. It is green on microcephaly and growth failure panels.
Created: 28 Nov 2019, 11:50 a.m. | Last Modified: 28 Nov 2019, 11:50 a.m.
Panel Version: 1.250
Associated with Insulin-like growth factor I, resistance to #270450 (AD, AR). More than 3 cases with variants in IFG1R reported in OMIM. Clinical features include short stature due to lack of response to IGF. Clinodactyly and short hands and feet also listed.
Created: 21 Nov 2019, 12:37 a.m. | Last Modified: 21 Nov 2019, 12:37 a.m.
Panel Version: 1.226
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; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: IGF1R.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: igf1r has been removed from the panel.

6 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 Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: IGF1R was set to