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  3. PLA2G16
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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: HGNC name is PLAAT3
Created: 7 Dec 2023, 6:35 a.m. | Last Modified: 7 Dec 2023, 6:35 a.m.
Panel Version: 0.5642
Created: 7 Dec 2023, 6:35 a.m.
Last Modified: 7 Dec 2023, 6:35 a.m.
Panel version: 0.5642

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.

Null mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ.
Created: 7 Dec 2023, 1:54 a.m. | Last Modified: 7 Dec 2023, 1:54 a.m.
Panel Version: 0.5628

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy (MONDO:0006573)

Publications

Created: 7 Dec 2023, 1:54 a.m.
Last Modified: 7 Dec 2023, 1:54 a.m.
Panel version: 0.5628

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
new gene name
OMIM
613867
Clinvar variants
Variants in PLA2G16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pla2g16 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: PLA2G16.

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pla2g16 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related

7 Dec 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pla2g16 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 0

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

Lauren Rogers (Victorian Clinical Genetics Services)

gene: PLA2G16 was added gene: PLA2G16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLA2G16 were set to PMID: 37919452 Phenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)