H19

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red H19 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)
  • Affected tissue: all
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome

Red H19 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Beckwith-Wiedemann syndrome, MIM#130650
  • Silver-Russell syndrome, MIM#180860

Red H19 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review Unknown
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Beckwith-Wiedemann Syndrome

Red H19 in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Silver-Russell syndrome, MIM# 180860

Red H19 in Imprinting disorders


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)
  • Affected tissue: all
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome

Red H19 in Fetal anomalies


Version 1.255

review 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

Red H19 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review Unknown
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Beckwith-Wiedemann Syndrome