Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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: 4 Dec 2019, 9:16 p.m. | Last Modified: 18 Feb 2022, 5:04 a.m.
Panel Version: 0.3685

Phenotypes
Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Beckwith-Wiedemann syndrome 130650
  • Silver-Russell syndrome 180860
  • Wilms tumor 2 194071
Tags
non-coding gene
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: H19.

18 Feb 2022, 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).

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: H19 was added gene: H19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650; Silver-Russell syndrome 180860; Wilms tumor 2 194071 Mode of pathogenicity for gene: H19 was set to Other