DDG2P
Gene: PLA2G16

PLA2G16 (phospholipase A2 group XVI)
EnsemblGeneIds (GRCh38): ENSG00000176485
EnsemblGeneIds (GRCh37): ENSG00000176485
OMIM: 613867, Gene2Phenotype
PLA2G16 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37919452).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683

Publications

37919452

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683

OMIM

613867

Clinvar variants

Variants in PLA2G16

Penetrance

None

Publications

37919452

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLA2G16 was added gene: PLA2G16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G16 were set to 37919452 Phenotypes for gene: PLA2G16 were set to PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683

DDG2P Gene: PLA2G16