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Mendeliome

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Moderate by ClinGen Hemostasis Thrombosis GCEP on 04/11/2024 -https://search.clinicalgenome.org/CCID:005820
Variants have been reported in 3 probands.
Created: 12 Nov 2024, 2:45 a.m. | Last Modified: 12 Nov 2024, 2:45 a.m.
Panel Version: 1.2135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0018794

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated individuals reported.
Sources: Expert list
Created: 15 Aug 2020, 8:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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 Mendeliome. 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