Inherited bleeding disorders

Gene: PLA2G4A

Green List (high evidence)

PLA2G4A (phospholipase A2 group IVA)
EnsemblGeneIds (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)

Green List (high evidence)

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

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PLA2G4A was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLA2G4A was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLA2G4A was created by ellenmcdonagh