Congenital disorders of glycosylation
Gene: PIGAGlyGen 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
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.
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
Tag Skewed X-inactivation tag was added to gene: PIGA.
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Publications for PIGA were set to 25885527
PIGA was added to Congenital disorders of glycosylationpanel. Source: UKGTN
PIGA was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
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
PIGA was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
PIGA was created by sleigh