Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: H19
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
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.
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.
Gene: h19 has been classified as Amber List (Moderate Evidence).
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)
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)
Publications for gene: H19 were set to PMID: 18836444
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for H19 was changed to Other - please provide details in the comments
H19 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Emory Genetics Laboratory,UKGTN,Expert Review Red
H19 was created by ellenmcdonagh