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BabyScreen+ newborn screening

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

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
non-coding gene
OMIM
103280
Clinvar variants
Variants in H19
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: H19.

18 Sep 2022, 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 gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: H19 was set to Unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome