Inherited bleeding disorders
Gene: PLA2G4AEnsemblGeneIds (GRCh38): ENSG00000116711
EnsemblGeneIds (GRCh37): ENSG00000116711
OMIM: 600522, Gene2Phenotype
PLA2G4A is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deficiency of phospholipase A2, group IV A
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deficiency of phospholipase A2, group IV A
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Deficiency of phospholipase A2, group IV A
- OMIM
- 600522
- Clinvar variants
- Variants in PLA2G4A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)PLA2G4A was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G4A was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)PLA2G4A was created by ellenmcdonagh