This Panel is marked as Retired
Epilepsy Plus
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
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- Complete
- Publications
-
- Johnston et al (2012) Am J Hum Genet 90, 295 300
- 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
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PIGA was added to Epilepsy Pluspanel. Sources: Expert Review,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIGA was created by ellenmcdonagh