Inherited bleeding disorders

Gene: HRG

Green List (high evidence)

HRG (histidine rich glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000113905
EnsemblGeneIds (GRCh37): ENSG00000113905
OMIM: 142640, Gene2Phenotype
HRG is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added missense tag- all variants reported to date are missense
Created: 16 May 2018, 9:24 a.m.
HRG is a thrombotic gene, there are two unrelated Japanese published cases Shigekiyo et al. (1998) PMID: 9414276, Shigekiyo et al. (2000) PMID:11057869 who had thrombophilia due to HRG deficiency. Also Luo et al. (2018) PMID: 29108964 performed whole-exome and direct sequencing to uncover the genetic cause of early-onset DVT in a Chinese family and identified a novel variant in the HRG gene, broadening the the mutation spectrum of the HRG gene and highlighting the importance of its function in regulating coagulation process. To date, all mutations identified in the HRG gene are all missense mutation that caused deficiency of plasma HRG.
Created: 16 May 2018, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Histidine-rich glycoprotein deficiency

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Histidine-rich glycoprotein deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Histidine-rich glycoprotein deficiency
  • Thrombophiliadue to elevated HRG
  • Thrombophilia due to HRG deficiency
  • Thrombophilia due to elevated HRG 613116
  • Thrombophilia due to HRG deficiency 613116
Tags
missense
OMIM
142640
Clinvar variants
Variants in HRG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Aug 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Eligibility statement prior genetic testing was added to HRG. Panel: Inherited bleeding disorders

16 May 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for HRG were set to 11057869; 9414276; 29108964

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

HRG was added to Inherited bleeding disorderspanel. Source: Other HRG was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

HRG was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HRG was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HRG was created by ellenmcdonagh