Silver Russell syndrome

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

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green as this gene is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019).
Created: 6 Nov 2019, 10:25 a.m. | Last Modified: 6 Nov 2019, 10:25 a.m.
Panel Version: 1.4

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.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene will remain red as pathogenicity is caused by changes to methylation of this gene
Created: 8 Jun 2016, 2:27 p.m.

Deborah Mackay (university of southampton)

Green List (high evidence)

In 2015 a multigenerational family was described in which paternal inheritance of IGF2 loss-of-function mutations caused SRS.
Created: 7 Jun 2016, 2:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
SRS

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
Phenotypes
  • Silver Russell syndrome, 180860
OMIM
147470
Clinvar variants
Variants in IGF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: igf2 has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IGF2 was created by sleigh

16 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IGF2 was added to Silver Russell syndromepanel. Sources: UKGTN