Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: IGF2
Review and Green rating from Kate Tatton-Brown April 2017 : Duplications have been associated with BWSCreated: 31 May 2019, 9:35 a.m.
Comment on list classification: This gene is being demoted to red as pathogenicity is caused by changes to methylation of this geneCreated: 8 Jun 2016, 2:31 p.m.
"Some microduplications encompassing IGF2 have been reported in association with Beckwith-Wiedemann syndrome" - Comment made by Richard Scott (North Thames GMC/UCL), Oct. 9, 2015, 9:47 p.m.Created: 29 Mar 2016, 1:32 p.m.
Mutational spectrum tested for by the UKGTN: loss of methylation at LIT1 (KvDMR1 within LIT1 - KCNQ1OT1 is the HGNC-approved symbol for LIT1), Hypermethylation of H19, duplication of paternally inherited 11p15 region, paternal uniparental disomy of 11p15 region, maternal H19 DMR microdeletion, maternal KvDMR1 microdeletion. ICR1 is the H19/IGF2-imprinting control region located in the 11p15.5 region.Created: 29 Mar 2016, 1:32 p.m.
Publications for gene: IGF2 were set to PMID: 17325026
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for IGF2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
IGF2 was created by ellenmcdonagh
IGF2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: UKGTN,Expert Review Red