Inherited bleeding disorders
Gene: HRGadded missense tag- all variants reported to date are missenseCreated: 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
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
Eligibility statement prior genetic testing was added to HRG. Panel: Inherited bleeding disorders
Publications for HRG were set to 11057869; 9414276; 29108964
Revised 19 December 2016
HRG was added to Inherited bleeding disorderspanel. Source: Other HRG was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen
HRG was added to Inherited bleeding disorderspanel. Source: Expert Review Green
HRG was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
HRG was created by ellenmcdonagh