H19

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green H19 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Silver-Russell syndrome, OMIM:180860
  • Wilms tumor 2, OMIM:194071
  • Beckwith-Wiedemann syndrome, OMIM:130650
Red H19 in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.12

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 1.65

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 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.120

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 3.164
Latest signed off version: v3.0 (22 Mar 2023)

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 3.94
Latest signed off version: v3.0 (22 Mar 2023)

review Other
Sources
  • Expert Review Red
Phenotypes
  • Russell-Silver syndrome
Tags
  • locus-type-rna-long-non-coding
Green H19 in Severe Paediatric Disorders


Version 1.184

review 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