Genomic imprinting
Gene: H19Comment on phenotypes: Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: allCreated: 18 Jan 2022, 1:25 p.m. | Last Modified: 18 Jan 2022, 1:25 p.m.
Panel Version: 0.106
the regulatory region of H19/IGF2 is >100kb and includes elements subject to parent-of-origin specific regulation. Indels, rearrangements and certain point mutations 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=1112. This is a (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
Phenotypes for gene: H19 were changed from Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650
This gene has been classified as Green List (High Evidence).
H19 was created by ellenmcdonagh
H19 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain