PLA2G6-associated neurodegeneration
MONDO:0017998Mondo
Findings
No curated finding names PLA2G6-associated neurodegeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.
Definition from the Mondo Disease Ontology (MONDO:0017998), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLA2G6HGNC:9039
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: PLA2G6-associated neurodegeneration
- Also called
- neurodegeneration with brain iron accumulation caused by mutation in PLA2G6PLA2G6 neurodegeneration with brain iron accumulationPLAN