Silver Russell syndrome

Gene: IGF1

Green List (high evidence)

IGF1 (insulin like growth factor 1)
EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 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 IGF1 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: IGF1
Created: 14 May 2019, 1:25 p.m.



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert list
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747
Clinvar variants
Variants in IGF1
Panels with this gene

History Filter Activity

30 Jun 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

IGF1 was created by sleigh

30 Jun 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

IGF1 was added to Silver Russell syndromepanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen