Mitochondrial disorders
Gene: PLA2G6
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
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
Tag Q3_23_promote_green tag was added to gene: PLA2G6.
Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953 to 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
Publications for gene: PLA2G6 were set to 29903433; 25348461; 26001724; 26506412; 30528460; 16783378
Mode of inheritance for gene: PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 29903433
Phenotypes for gene: PLA2G6 were changed from to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953
Publications for gene: PLA2G6 were set to
gene: PLA2G6 was added gene: PLA2G6 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to