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 1.10

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 1.29

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 Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.0

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 1.94

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


Version 0.371

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

Red H19 in Growth failure in early childhood


Version 1.3

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