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  3. H19
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Growth failure

Gene: H19

Red List (low evidence)
H19 (H19, imprinted maternally expressed transcript (non-protein coding))
EnsemblGeneIds (GRCh38): ENSG00000130600
EnsemblGeneIds (GRCh37): ENSG00000130600
OMIM: 103280, Gene2Phenotype
H19 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Methylation changes rather than sequence variation are associated with RSS.
Created: 29 Aug 2021, 12:29 a.m. | Last Modified: 29 Aug 2021, 12:29 a.m.
Panel Version: 0.329

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Silver-Russell syndrome, MIM# 180860

Created: 29 Aug 2021, 12:29 a.m.
Last Modified: 29 Aug 2021, 12:29 a.m.
Panel version: 0.329

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Silver-Russell syndrome, MIM# 180860
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
None
Panels with this gene

History Filter Activity

29 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h19 has been classified as Red List (Low Evidence).

29 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: H19 were changed from Russell-Silver syndrome to Silver-Russell syndrome, MIM# 180860

29 Aug 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: H19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

19 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: H19 was added gene: H19 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: H19 was set to Unknown Phenotypes for gene: H19 were set to Russell-Silver syndrome