Silver Russell syndromeGene: H19
Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:29 p.m.
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, 2:28 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. At least three reports of H19 hypomethlyation associated with Silver-Russell syndrome.
Created: 8 Jun 2016, 1:17 p.m.
the enhancer sequence 3000-5000 nucleotides 5' to H19 is a paternally-methylated imprinting control region (ICR) whose hypomethylation is the major recognised cause of SRS. Genomic variants in this ICR, and in the proximal promoter of H19, have rarely been described in families affected by SRS, but to date no comprehensive promoter analysis has been performed to determine whether cis-acting mutations account for the hypomethylation seen in some patients.
NB: hypERmethylation of the ICR is associated with a phenotypic 'opposite' to SRS, BWS. In the case of BWS, deletions and SNVs of the ICR have been unequivocally associated with familial BWS. [The evidence base is not cited here as not directly germane to SRS.]
Created: 7 Jun 2016, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mode of pathogenicity
Phenotypes for H19 were set to Silver-Russell syndrome 180860
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for H19 were set to 20007505; 16532391
Publications for H19 were set to 20007505; 21863054; 15743916; 25943194; 24916376; 23118352; 21571108; 18245780; 16532391
H19 was added to Silver Russell syndromepanel. Sources: Literature
Publications for H19 were set to 20007505; 21863054; 15743916; 25943194; 24916376; 23118352; 21571108; 18245780
H19 was added to Silver Russell syndromepanel. Source: Radboud University Medical Center, Nijmegen
H19 was added to Silver Russell syndromepanel. Source: Emory Genetics Laboratory
H19 was created by sleigh
H19 was added to Silver Russell syndromepanel. Sources: UKGTN