Inherited bleeding disorders
Gene: PIGAEnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
1 review
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Paroxysmal nocturnal haemoglobinuria, somatic, 300818
- Tags
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- DDG2P
- Thrombophilia with a likely monogenic cause
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- Clefting
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: PIGA.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: piga has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: piga has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PIGA were set to
Added Tag, Added Tag
Louise Daugherty (Genomics England Curator)Tag treatable tag was added to gene: PIGA. Tag somatic tag was added to gene: PIGA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)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