Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: H19EnsemblGeneIds (GRCh38): ENSG00000130600
EnsemblGeneIds (GRCh37): ENSG00000130600
OMIM: 103280, Gene2Phenotype
H19 is in 6 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Review and Green rating from Kate Tatton-Brown April 2017. Mostly imprinted in BWSCreated: 31 May 2019, 9:24 a.m.
Mode of pathogenicity
Other
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 3:28 p.m.
"Variants in the H19 are not known to cause BWS. Some deletions and other disruptions of the upstream H19 DMR are causative on the maternal allele through disruption of the imprinting centre. Until these can be captured, variants in the H19 region should not be reported" - Comment from Richard Scott (North Thames GMC/UCL), Oct. 9, 2015, 9:44 p.m.Created: 29 Mar 2016, 1:31 p.m.
Methylation-specific MLPA (MS-MLPA) of this gene is used to test for Beckwith-Wiedemann syndrome by Emory Genetics Laboratory. Mutational spectrum tested for by the UKGTN: loss of methylation at LIT1 (KCNQ1OT1 is the HGNC-approved symbol for this gene, KvDMR1 within LIT1), Hypermethylation of H19, duplication of paternally inherited 11p15 region, paternal uniparental disomy of 11p15 region, maternal H19 DMR microdeletion, maternal KvDMR1 microdeletion. ICR1 is the H19/IGF2-imprinting control region located in the 11p15.5 region.Created: 29 Mar 2016, 1:30 p.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene will remain red as pathogenicity is caused by changes to methylation of this geneCreated: 8 Jun 2016, 2:24 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Amber
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Beckwith-Wiedemann syndrome (BWS)
- Tags
- OMIM
- 103280
- Clinvar variants
- Variants in H19
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: h19 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: H19 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: H19 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: H19 were set to PMID: 18836444
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for H19 was changed to Other - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)H19 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Emory Genetics Laboratory,UKGTN,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)H19 was created by ellenmcdonagh