Inherited bleeding disorders

Gene: PIGA

Red List (low evidence)

PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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 list
Created: 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
Phenotypes
  • Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Tags
treatable somatic Skewed X-inactivation
OMIM
311770
Clinvar variants
Variants in PIGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Skewed X-inactivation tag was added to gene: PIGA.

19 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: piga has been classified as Red List (Low Evidence).

18 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: piga has been classified as Amber List (Moderate Evidence).

18 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIGA were set to

18 Sep 2018, Gel status: 1

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.

18 Sep 2018, Gel status: 1

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