Mitochondrial disease
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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.
Sources: NHS GMSCreated: 22 Mar 2020, 3:34 a.m.
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Infantile neuroaxonal dystrophy 1 MIM#256600
- Neurodegeneration with brain iron accumulation 2B MIM#610217
- Parkinson disease 14, autosomal recessive MIM#612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pla2g6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pla2g6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PLA2G6 was added gene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 Review for gene: PLA2G6 was set to GREEN