Lipodystrophy - childhood onset
Gene: PLA2G16EnsemblGeneIds (GRCh38): ENSG00000176485
EnsemblGeneIds (GRCh37): ENSG00000176485
OMIM: 613867, Gene2Phenotype
PLA2G16 is in 4 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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: 11 Dec 2025, 10:54 a.m. | Last Modified: 11 Dec 2025, 10:54 a.m.
Panel Version: 4.64
Eleanor Williams (Genomics England Curator)
Comment on list classification: Rating as amber but with a recommendation for green rating following GMS review. 4 cases with 3 different variants in PLA2G16/PLAAT3 and a consistent phenotype that includes lipoatrophy and insulin resistance with childhood onset of symptoms.Created: 1 Nov 2024, 12:51 a.m. | Last Modified: 1 Nov 2024, 12:51 a.m.
Panel Version: 4.60
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
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
- OMIM
- 613867
- Clinvar variants
- Variants in PLA2G16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: PLA2G16.
Added New Source, Added New Source, Status Update
Arina Puzriakova (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)
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_24_NHS_review was removed from gene: PLA2G16.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
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 Lipodystrophy - childhood onset. 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