Inherited bleeding disorders
Gene: PIGA
Comment on list classification: This is a disease modifier gene. Somatic variants cause Paroxysmal nocturnal haemoglobinuria.Created: 19 Sep 2018, 12:25 p.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert listCreated: 18 Sep 2018, 4:01 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Tag Skewed X-inactivation tag was added to gene: PIGA.
Gene: piga has been classified as Red List (Low Evidence).
Gene: piga has been classified as Amber List (Moderate Evidence).
Publications for gene: PIGA were set to
Tag treatable tag was added to gene: PIGA. Tag somatic tag was added to gene: PIGA.
gene: PIGA was added gene: PIGA was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to Paroxysmal nocturnal haemoglobinuria, somatic, 300818 Review for gene: PIGA was set to AMBER