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  2. Monogenic short stature
  3. IGF2
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Monogenic short stature

Gene: IGF2

Green List (high evidence)
IGF2 (insulin like growth factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167244
EnsemblGeneIds (GRCh37): ENSG00000167244
OMIM: 147470, Gene2Phenotype
IGF2 is in 8 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous phenotypes (overwritten): SRS;IUGR;Pre- and post-natal growth failure;?Growth restriction, severe, with distinctive facies, 616489;Silver-Russell phenptype
Created: 26 Mar 2024, 3:54 p.m. | Last Modified: 26 Mar 2024, 3:54 p.m.
Panel Version: 3.33
Created: 26 Mar 2024, 3:54 p.m.
Last Modified: 26 Mar 2024, 3:54 p.m.
Copied from panel: Growth failure in early childhood v3.76

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from IGF2- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 1:58 p.m. | Last Modified: 13 Jan 2020, 1:58 p.m.
Panel Version: 1.3
Created: 13 Jan 2020, 1:58 p.m.
Last Modified: 13 Jan 2020, 1:58 p.m.
Copied from panel: Growth failure in early childhood v3.76

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 IGF2 should be included on the panel. Therefore updated rating from Red to 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: SRS.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
SRS

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver-Russell syndrome 3, OMIM:616489
OMIM
147470
Clinvar variants
Variants in IGF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: IGF2 was added gene: IGF2 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to 26154720 Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3, OMIM:616489