Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: IGF2

Red List (low evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017 : Duplications have been associated with BWS
Created: 31 May 2019, 9:35 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is being demoted to red as pathogenicity is caused by changes to methylation of this gene
Created: 8 Jun 2016, 2:31 p.m.

Ellen McDonagh (Genomics England Curator)

"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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
OMIM
147470
Clinvar variants
Variants in IGF2
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

31 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGF2 were set to PMID: 17325026

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).

29 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IGF2 was created by ellenmcdonagh

29 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IGF2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: UKGTN,Expert Review Red