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| Mitochondrial disorders v4.91 | PLA2G6 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PLA2G6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.91 | PLA2G6 | Sarah Leigh Classified gene: PLA2G6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.91 | PLA2G6 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.91 | PLA2G6 | Sarah Leigh Gene: pla2g6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.90 | PLA2G6 | Sarah Leigh edited their review of gene: PLA2G6: Added comment: 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.; Changed rating: GREEN; Changed publications to: 32357911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.90 | PLA2G6 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.89 | PLA2G6 | Sarah Leigh Publications for gene: PLA2G6 were set to 29903433; 25348461; 26001724; 26506412; 30528460; 16783378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.88 | PLA2G6 | Sarah Leigh Mode of inheritance for gene: PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.87 | PLA2G6 | Sarah Leigh Publications for gene: PLA2G6 were set to 29903433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | PLA2G6 | Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25348461, 26001724, 26506412, 30528460, 16783378; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217, Parkinson disease 14, autosomal recessive MIM#612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.485 | PLA2G6 | Sarah Leigh edited their review of gene: PLA2G6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.485 | PLA2G6 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least 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). ; to: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported.; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh Publications for gene: PLA2G6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PLA2G6 | Sarah Leigh reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Infantile neuroaxonal dystrophy 1 256600, Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | PLA2G6 |
Sarah Leigh gene: PLA2G6 was added gene: PLA2G6 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to |
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