1. Panels
  2. Bleeding and Platelet Disorders
  3. PLA2G4A
STRs in panel
Prev Next
Regions in panel
Prev Next

Bleeding and Platelet Disorders

Gene: PLA2G4A

Green List (high evidence)
PLA2G4A (phospholipase A2 group IVA)
EnsemblGeneIds (GRCh38): ENSG00000116711
EnsemblGeneIds (GRCh37): ENSG00000116711
OMIM: 600522, Gene2Phenotype
PLA2G4A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 15 Aug 2020, 8:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372

Publications

Created: 15 Aug 2020, 8:45 a.m.

Panel version: 0.133

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
OMIM
600522
Clinvar variants
Variants in PLA2G4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pla2g4a has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pla2g4a has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLA2G4A was added gene: PLA2G4A was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370 Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372 Review for gene: PLA2G4A was set to GREEN