Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: H19

Amber List (moderate evidence)

H19 (H19, imprinted maternally expressed transcript (non-protein coding))
EnsemblGeneIds (GRCh38): ENSG00000130600
EnsemblGeneIds (GRCh37): ENSG00000130600
OMIM: 103280, Gene2Phenotype
H19 is in 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017. Mostly imprinted in BWS
Created: 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 gene
Created: 8 Jun 2016, 2:24 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome (BWS)
Tags
locus-type-rna-long-non-coding
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

31 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: h19 has been classified as Amber List (Moderate Evidence).

31 May 2019, Gel status: 1

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)

31 May 2019, Gel status: 1

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)

31 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: H19 were set to PMID: 18836444

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: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

29 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for H19 was changed to Other - please provide details in the comments

29 Mar 2016, Gel status: 1

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

29 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

H19 was created by ellenmcdonagh