Genomic imprinting
Gene: IGF2
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human).Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
the regulatory region of H19/IGF2 is >100kb and includes elements subject to parent-of-origin specific regulation. Indels, point mutations and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks.http://www.imprinting-disorders.eu/?page_id=21. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C); (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified)Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
From the Silver Russell syndrome gene panel
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Source Literature was added to IGF2. Publications for gene IGF2 were updated from PMID: 26154720 to PMID: 26154720; 30794780; http://igc.otago.ac.nz/home.html
This gene has been classified as Green List (High Evidence).
IGF2 was created by ellenmcdonagh
IGF2 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain