Genomic imprinting
Gene: IGF2EnsemblGeneIds (GRCh38): ENSG00000167244
EnsemblGeneIds (GRCh37): ENSG00000167244
OMIM: 147470, Gene2Phenotype
IGF2 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome
- Affected tissue: all
- OMIM
- 147470
- Clinvar variants
- Variants in IGF2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)IGF2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IGF2 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain