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Intellectual disability

Gene: PLA2G16

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

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating as amber. 3 cases with intellectual disability but the severity is not noted.
Created: 1 Nov 2024, 12:53 a.m. | Last Modified: 1 Nov 2024, 12:53 a.m.
Panel Version: 8.6
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

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.
Copied from panel: Hereditary neuropathy or pain disorder v6.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

1 Nov 2024, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

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

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: 2

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

Eleanor Williams (Genomics England Curator)

gene: PLA2G16 was added gene: PLA2G16 was added to Intellectual disability. Sources: Expert list,Expert Review Amber new-gene-name, Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PLA2G16. 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 Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034