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  2. Childhood solid tumours
  3. H19
STRs in panel
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Childhood solid tumours

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.
Created: 6 Jan 2017, 3:29 p.m.

Panel version: 1.2

Ellen Thomas (Genomics England Curator)

Comment on list classification: Only methylation defects of H19 cause disease, not sequence variation.
Created: 14 Feb 2016, 5:42 p.m.
Created: 14 Feb 2016, 5:42 p.m.

Panel version: 0.24

Eik Haraldsdottir (Genomics England)

Methylation status
Created: 22 Jul 2015, 2:11 p.m.
Created: 22 Jul 2015, 2:11 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Russell-Silver Syndrome
  • Silver-Russell Syndrome
Tags
locus-type-rna-long-non-coding
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

H19 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

H19 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory