Mitochondrial disorders
Gene: PLA2G6

PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported.
Created: 23 Mar 2020, 12:27 a.m. | Last Modified: 23 Mar 2020, 12:27 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Mar 2020, 12:27 a.m.
Last Modified: 23 Mar 2020, 12:27 a.m.
Panel version: 2.5

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: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 29 Aug 2023, 12:59 p.m. | Last Modified: 29 Aug 2023, 12:59 p.m.

Panel Version: 4.91

Phospholipase A2 group VI (PLA2G6) is located in the mitochondrial membrane, in addition to the cytosol and endoplasmic reticulum (PMID: 32357911). Studies in PLA2G6 variant Drosophilia and PLA2G6 knock-down human fibrocytes suggest that PLA2G6 plays an important role in endolysosomal and mitochondrial function in disease (PMID: 30528460). PLA2G6 variants have been associated with Infantile neuroaxonal dystrophy 1, (OMIM:256600), Neurodegeneration with brain iron accumulation 2B (OMIM:610217) and Parkinson disease 14, autosomal recessive (OMIM:612953)(PMID: 35803092, 16783378, 30528460.
Created: 29 Aug 2023, 12:58 p.m. | Last Modified: 29 Aug 2023, 12:58 p.m.

Panel Version: 4.90

Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. Numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow).
Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 22 Aug 2019, 11:12 a.m.

Panel Version: 1.485

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953

Publications

32357911

Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 22 Aug 2019, 11:12 a.m.
Panel version: 6.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Expert list

Phenotypes

Infantile neuroaxonal dystrophy 1, OMIM:256600
neurodegeneration with brain iron accumulation 2A, MONDO:0024457
Neurodegeneration with brain iron accumulation 2B, OMIM:610217
neurodegeneration with brain iron accumulation 2B, MONDO:0012444
Parkinson disease 14, autosomal recessive, OMIM:612953
autosomal recessive Parkinson disease 14 MONDO:0013060

OMIM

603604

Clinvar variants

Variants in PLA2G6

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: PLA2G6.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PLA2G6. Source Expert Review Green was added to PLA2G6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2023, Gel status: 2