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  2. Bleeding and Platelet Disorders
  3. PTPRJ
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Bleeding and Platelet 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Created: 16 Aug 2020, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia 10, MIM# 620484

Publications

Created: 16 Aug 2020, 3:53 a.m.

Panel version: 1.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Thrombocytopenia 10, MIM# 620484
OMIM
600925
Clinvar variants
Variants in PTPRJ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484

17 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRJ were changed from Thrombocytopania to Thrombocytopaenia

16 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTPRJ was added gene: PTPRJ was added to Bleeding Disorders. Sources: Expert list 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 Thrombocytopania Review for gene: PTPRJ was set to AMBER