Cytopenias and congenital anaemias
Gene: PIGA
PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
2 reviews
Arianna Tucci (Genomics England Curator)
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
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- Complete
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- DDG2P
- Thrombophilia with a likely monogenic cause
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- Clefting
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