Silver Russell syndrome

Gene: H19

Red List (low evidence)

H19 (H19, imprinted maternally expressed transcript (non-protein coding))
EnsemblGeneIds (GRCh38): ENSG00000130600
EnsemblGeneIds (GRCh37): ENSG00000130600
OMIM: 103280, Gene2Phenotype
H19 is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:29 p.m.

Sarah Leigh (Genomics England Curator)

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.

Deborah Mackay (university of southampton)

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Silver-Russell syndrome 180860
Tags
locus-type-rna-long-non-coding
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for H19 were set to Silver-Russell syndrome 180860

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for H19 were set to 20007505; 16532391

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for H19 were set to 20007505; 21863054; 15743916; 25943194; 24916376; 23118352; 21571108; 18245780; 16532391

8 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

H19 was added to Silver Russell syndromepanel. Sources: Literature

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for H19 were set to 20007505; 21863054; 15743916; 25943194; 24916376; 23118352; 21571108; 18245780

16 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

H19 was added to Silver Russell syndromepanel. Source: Radboud University Medical Center, Nijmegen

16 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

H19 was added to Silver Russell syndromepanel. Source: Emory Genetics Laboratory

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

H19 was created by sleigh

16 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

H19 was added to Silver Russell syndromepanel. Sources: UKGTN