H19

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red H19 in Mendeliome Version 1.3512	1 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 Tags non-coding gene
Red H19 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Beckwith-Wiedemann syndrome, MIM#130650 Silver-Russell syndrome, MIM#180860 Tags non-coding gene
Red H19 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	Unknown	Sources Expert Review Red BabySeq Category A gene Phenotypes Beckwith-Wiedemann Syndrome Tags non-coding gene
Red H19 in Growth failure Version 1.83	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Genomics England PanelApp Phenotypes Silver-Russell syndrome, MIM# 180860 Tags non-coding gene
Red H19 in Imprinting disorders Version 1.8	1 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 Tags non-coding gene
Red H19 in Fetal anomalies Version 1.465	1 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 Tags non-coding gene
Red H19 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	Unknown	Sources BabySeq Category A gene Expert Review Red Phenotypes Beckwith-Wiedemann Syndrome Tags non-coding gene