Inherited bleeding disorders

Gene: HRG

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

• 11057869
• 9414276
• 29108964

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