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Cytopenias and congenital anaemias

Gene: PIGA

Red List (low evidence)

PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Phenotypes
Paroxysmal nocturnal hemoglobinuria, somatic, 300818

Ellen McDonagh (Genomics England Curator)

Added the 'treatable' tag: PIGA mutations are associated with improved response to immunosuppression PMID: 28107566.
Created: 1 Mar 2017, 2:08 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
Tags
treatable somatic Skewed X-inactivation
OMIM
311770
Clinvar variants
Variants in PIGA
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Skewed X-inactivation tag was added to gene: PIGA.

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PIGA was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIGA was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PIGA was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen