Silver Russell syndrome

Gene: 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.

Green List (high evidence)

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)

Phenotypes
SRS

Publications

• 16086014
• 20007505

Mode of pathogenicity
Other