Congenital disorders of glycosylation
Gene: PIGAEnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P37287-1Created: 9 Jan 2020, 2:43 p.m. | Last Modified: 9 Jan 2020, 2:43 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
GlyGen link updated April 2021: https://www.glygen.org/protein/P37287-1#DiseaseCreated: 8 Apr 2021, 1:44 p.m. | Last Modified: 8 Apr 2021, 1:44 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 19 Dec 2016, 11:09 a.m.
Comment on phenotypes: Also associated with somatic variants in Paroxysmal nocturnal hemoglobinuria, somatic 300818Created: 19 Dec 2016, 11:08 a.m.
Daniel Ungar (University of York, Department of Biology)
This is an X-linked disease. Germline mutations are reported only for male patients. Somatic mutations in heamatopoetic cells are more common, and are gender independent.Created: 13 Dec 2016, 4:58 p.m.
Mode of inheritance
Other
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
- PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Tags
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- DDG2P
- Thrombophilia with a likely monogenic cause
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Clefting
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: PIGA.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Set publications
Sarah Leigh (Genomics England Curator)Publications for PIGA were set to 25885527
Added New Source
Sarah Leigh (Genomics England Curator)PIGA was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)PIGA was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)PIGA was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Sarah Leigh (Genomics England Curator)PIGA was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)PIGA was created by sleigh