Inherited bleeding disorders

Gene: PTPRJ

Amber List (moderate evidence)

PTPRJ (protein tyrosine phosphatase, receptor type J)
EnsemblGeneIds (GRCh38): ENSG00000149177
EnsemblGeneIds (GRCh37): ENSG00000149177
OMIM: 600925, Gene2Phenotype
PTPRJ is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Marconi C et al. Dec 2018 (PMID: 30591527) through exome sequencing of two siblings with autosomal recessive thrombocytopenia, identified two biallelic loss-of-function variants in the gene PTPRJ. They also investigated the pathogenic role of PTPRJ deficiency in hematopoiesis in vivo, carried out using CRISPR/Cas9-mediated ablation of ptprja (the ortholog of human PTPRJ) in zebrafish, which induced a significantly decreased number of CD41+ thrombocytes in vivo. Megakaryocytes of the patients showed impaired maturation and profound defects in SDF1-driven migration and formation of proplatelets in vitro. Silencing of PTPRJ in a human megakaryocytic cell line reproduced the functional defects observed in patients' megakaryocytes. The disorder caused by PTPRJ mutations presented as a non-syndromic thrombocytopenia characterized by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Sources: Literature
Created: 7 Jan 2019, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia; spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Thrombocytopenia
  • spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Tags
watchlist
OMIM
600925
Clinvar variants
Variants in PTPRJ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ptprj has been classified as Amber List (Moderate Evidence).

7 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: PTPRJ was added gene: PTPRJ was added to Inherited bleeding disorders. Sources: Literature watchlist tags were added to gene: PTPRJ. Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPRJ were set to 30591527 Phenotypes for gene: PTPRJ were set to Thrombocytopenia; spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Review for gene: PTPRJ was set to AMBER