neurodegeneration with brain iron accumulation 2B
MONDO:0012444Mondo
Findings
No curated finding names neurodegeneration with brain iron accumulation 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 · Ambry Genetics · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: neurodegeneration with brain iron accumulation 2B
- Also called
- NBIA2Bneuroaxonal dystrophy, atypicalneurodegeneration with brain iron accumulation type 2Bneurodegeneration with brain iron accumulation, Pla2g6-related