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Severe Paediatric Disorders

Gene: H19

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: H19; Recommended initial gene rating: Green List (high evidence); Phenotypes: Beckwith-Wiedemann syndrome, 130650 (3) | Silver-Russell syndrome, 180860 (3) | Wilms tumor 2, 194071 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant, Somatic mutation
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver-Russell syndrome, OMIM:180860
  • Wilms tumor 2, OMIM:194071
  • Beckwith-Wiedemann syndrome, OMIM:130650
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics