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Bleeding and platelet disorders

Gene: P2RX1

Amber List (moderate evidence)
P2RX1 (purinergic receptor P2X 1)
EnsemblGeneIds (GRCh38): ENSG00000108405
EnsemblGeneIds (GRCh37): ENSG00000108405
OMIM: 600845, Gene2Phenotype
P2RX1 is in 1 panel

3 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

I don't know

Created: 28 May 2019, 1:11 p.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc)
Created: 28 May 2019, 3:42 p.m.
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY N/A; PMID(s): 10816552
Created: 5 Feb 2019, 1:26 p.m.
Created: 5 Feb 2019, 1:26 p.m.

Panel version: 0.56

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 11:19 a.m.

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

Created: 5 Feb 2019, 11:19 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY
OMIM
600845
Clinvar variants
Variants in P2RX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: p2rx1 has been classified as Amber List (Moderate Evidence).

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to P2RX1.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to P2RX1. Mode of inheritance for gene P2RX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY for gene: P2RX1 Publications for gene P2RX1 were changed from to 10816552 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: P2RX1 was added gene: P2RX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: P2RX1 was set to