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Hereditary neuropathy or pain disorder

Gene: PLA2G16

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:02 p.m.
Last Modified: 24 Feb 2025, 5:02 p.m.
Panel version: 6.148

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.
Created: 1 Nov 2024, 12:23 a.m. | Last Modified: 1 Nov 2024, 12:23 a.m.
Panel Version: 6.19
The new gene name for PLA2G16 is PLAAT3.
Created: 1 Nov 2024, 12:22 a.m. | Last Modified: 1 Nov 2024, 12:22 a.m.
Panel Version: 6.17
Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded.

Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients).

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.
Created: 1 Nov 2024, 12:21 a.m. | Last Modified: 1 Nov 2024, 12:42 a.m.
Panel Version: 6.19
Added as green by Alexander Rossor (UCL Institute of Neurology) - see https://panelapp.genomicsengland.co.uk/panels/846/gene/PLAA/
Sources: Expert list
Created: 31 Oct 2024, 11:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034

Publications

Created: 31 Oct 2024, 11:49 p.m.
Last Modified: 1 Nov 2024, 12:42 a.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Associated with Lipodystrophy, familial partial, type 9, OMIM:620683
  • lipodystrophy, familial partial, type 9, MONDO:0958034
Tags
new-gene-name
OMIM
613867
Clinvar variants
Variants in PLA2G16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: PLA2G16. Tag Q3_24_NHS_review was removed from gene: PLA2G16.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to PLA2G16. Source Expert Review Green was added to PLA2G16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pla2g16 has been classified as Amber List (Moderate Evidence).

1 Nov 2024, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PLA2G16 were changed from to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034

1 Nov 2024, Gel status: 1

Added Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: PLA2G16. Tag Q3_24_promote_green tag was added to gene: PLA2G16. Tag Q3_24_NHS_review tag was added to gene: PLA2G16.

31 Oct 2024, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PLA2G16 was added gene: PLA2G16 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G16 were set to 37919452