Genomic imprinting
Gene: H19EnsemblGeneIds (GRCh38): ENSG00000130600
EnsemblGeneIds (GRCh37): ENSG00000130600
OMIM: 103280, Gene2Phenotype
H19 is in 6 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Silver-Russell syndrome, OMIM:180860
- Wilms tumor 2, OMIM:194071
- Beckwith-Wiedemann syndrome, OMIM:130650
- Tags
- OMIM
- 103280
- Clinvar variants
- Variants in H19
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: H19.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
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)H19 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)H19 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain