Epileptic encephalopathy
Gene: PIGAEnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
- Johnston et al (2012) Am J Hum Genet 90, 295_300
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
- Johnston et al (2012) Am J Hum Genet 90, 295_300
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
- Johnston et al (2012) Am J Hum Genet 90, 295_300
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
- Johnston et al (2012) Am J Hum Genet 90, 295 300
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: G2P and OMIM both state biallelic in females, confirmed with reviewer.Created: 29 Jan 2016, 5:03 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 21 Jan 2016, 11:27 a.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:18 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PIGA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PIGA was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Richard Scott (North Thames GMC/UCL)PIGA was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)PIGA was added to Epileptic encephalopathypanel. Sources: Expert Review