Bleeding and platelet disorders
Gene: P2RX1
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 AmberCreated: 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): 10816552Created: 5 Feb 2019, 1:26 p.m.
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
Gene: p2rx1 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to P2RX1.
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)
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