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  3. H19
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Imprinting disorders

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 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Methylation changes rather than sequence variation are associated with BWS/RSS.
Created: 17 Oct 2021, 5:56 a.m. | Last Modified: 17 Oct 2021, 5:56 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome

Publications

Created: 17 Oct 2021, 5:56 a.m.
Last Modified: 17 Oct 2021, 5:56 a.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)
  • Affected tissue: all
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h19 has been classified as Red List (Low Evidence).

17 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h19 has been classified as Red List (Low Evidence).

6 Aug 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: H19 was added gene: H19 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: H19 were set to PMID: 20007505; 15743916; 23118352; [21863054; 21571108; 18245780]; 24916376; 25943194 Phenotypes for gene: H19 were set to Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome