Silver Russell syndromeGene: IGF2
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
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.
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.
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)
Gene: igf2 has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
IGF2 was created by sleigh
IGF2 was added to Silver Russell syndromepanel. Sources: UKGTN