Bleeding and Platelet Disorders
Gene: PIGAEnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 15 panels
1 review
Jane Lin (The Alfred Hospital)
PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes.
Sources: Expert list
Note: a few publications on constitutive PIGA mutations don't describe thrombosis as part of the phenotype. Note that homozygous/hemizygous mutations are rare and quite lethal.
PMID: 22305531
PMID: 34875027
Created: 23 Jul 2024, 2:40 a.m. | Last Modified: 12 Aug 2024, 1:54 a.m.
Panel Version: 1.47
Mode of inheritance
Unknown
Phenotypes
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Paroxysmal nocturnal hemoglobinuria, somatic, MIM# 300818
- Tags
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Genetic Epilepsy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: piga has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIGA were changed from PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 to Paroxysmal nocturnal hemoglobinuria, somatic, MIM# 300818
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: piga has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: PIGA.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Jane Lin (The Alfred Hospital)gene: PIGA was added gene: PIGA was added to Bleeding and Platelet Disorders. Sources: Expert list Mode of inheritance for gene: PIGA was set to Unknown Publications for gene: PIGA were set to PMID: 9019395; PMID: 28516949 Phenotypes for gene: PIGA were set to PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 Review for gene: PIGA was set to RED gene: PIGA was marked as current diagnostic