Skeletal dysplasia

Gene: IGF1R

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

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.