Silver Russell syndrome

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

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that IGF1R should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: 15q-Del
Created: 14 May 2019, 1:25 p.m.

Phenotypes
15q-Del

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insulin-like growth factor I, resistance to 270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Jun 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

IGF1R was added to Silver Russell syndromepanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

30 Jun 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IGF1R was created by sleigh