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  3. PLAA
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Hereditary neuropathy or pain disorder

Gene: PLAA

No list
PLAA (phospholipase A2 activating protein)
EnsemblGeneIds (GRCh38): ENSG00000137055
EnsemblGeneIds (GRCh37): ENSG00000137055
OMIM: 603873, Gene2Phenotype
PLAA is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

The paper PMID:37919452 refers to gene PLAAT3 previously known as PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
Created: 31 Oct 2024, 10:47 p.m. | Last Modified: 31 Oct 2024, 11:47 p.m.
Panel Version: 6.16
Created: 31 Oct 2024, 10:47 p.m.
Last Modified: 31 Oct 2024, 11:47 p.m.
Panel version: 6.16

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

gene is PLAAT3
Sources: Expert list
Created: 19 Oct 2024, 11:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lipodystrophy; peripheral neuropathy

Publications

Created: 19 Oct 2024, 11:12 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • lipodystrophy
  • peripheral neuropathy
Tags
curated_removed
OMIM
603873
Clinvar variants
Variants in PLAA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Oct 2024, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag curated_removed tag was added to gene: PLAA.

19 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: PLAA was added gene: PLAA was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAA were set to 37919452 Phenotypes for gene: PLAA were set to lipodystrophy; peripheral neuropathy Penetrance for gene: PLAA were set to Complete Review for gene: PLAA was set to GREEN