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  3. IGF1
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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 9 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.
Created: 30 May 2019, 9:34 a.m.

Panel version: Imported from Growth failure in early childhood panel version 0.21

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.

Phenotypes
IGF1

Created: 14 May 2019, 1:25 p.m.

Panel version: Imported from Growth failure in early childhood panel version 0.17

Details

Mode of Inheritance
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 deficiency, OMIM:608747
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 to Insulin-like growth factor I deficiency, OMIM:608747

30 Jun 2016, Gel status: 0

Created

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