1. Panels
  2. Monogenic short stature
  3. IGF1R
STRs in panel
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Monogenic short stature

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

Copied from panel: Growth failure in early childhood v3.76

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

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

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Insulin-like growth factor I, resistance to, OMIM:270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: IGF1R was added gene: IGF1R was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, OMIM:270450