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  2. Bleeding and Platelet Disorders
  3. HRG
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Bleeding and Platelet Disorders

Gene: HRG

Green List (high evidence)
HRG (histidine rich glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000113905
EnsemblGeneIds (GRCh37): ENSG00000113905
OMIM: 142640, Gene2Phenotype
HRG is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Sources: Expert Review
Created: 4 May 2022, 6:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombophilia 11 due to HRG deficiency, MIM# 613116

Publications

Created: 4 May 2022, 6:30 a.m.

Panel version: 1.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Thrombophilia 11 due to HRG deficiency, MIM# 613116
OMIM
142640
Clinvar variants
Variants in HRG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hrg has been classified as Green List (High Evidence).

4 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hrg has been classified as Green List (High Evidence).

4 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HRG was added gene: HRG was added to Bleeding and Platelet Disorders. Sources: Expert Review Mode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRG were set to 8236132; 11057869; 11057869; 29108964 Phenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116 Review for gene: HRG was set to GREEN