This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Paroxysmal nocturnal hemoglobinuria, somatic, 300818
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- Clefting
- Undiagnosed metabolic disorders
- Thrombophilia with a likely monogenic cause
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PIGA was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen
29 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PIGA was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIGA was created by ellenmcdonagh