1. Genes and Genomic Entities
  2. H19

H19

H19, imprinted maternally expressed transcript (non-protein coding)
OMIM: 103280, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red H19 in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Silver-Russell syndrome 180860
Tags
  • locus-type-rna-long-non-coding
Red H19 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Russell-Silver syndrome
Tags
  • locus-type-rna-long-non-coding
Red H19 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
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
Amber H19 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.121

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann syndrome (BWS)
Tags
  • locus-type-rna-long-non-coding
Red H19 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Wilms tumor 2 194071
  • Beckwith-Wiedemann syndrome 130650
  • Silver-Russell syndrome 180860
Tags
  • locus-type-rna-long-non-coding
Red H19 in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review Other
Sources
  • Expert Review Red
Phenotypes
  • Russell-Silver syndrome
Tags
  • locus-type-rna-long-non-coding