peroxisome biogenesis disorder 1B
MONDO:0011101Mondo
Findings
No curated finding names peroxisome biogenesis disorder 1B 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.
- PEX1HGNC:8850
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: peroxisome biogenesis disorder 1B
- Also called
- peroxisome biogenesis disorder 1B (NALD/IRD)peroxisome biogenesis disorder type 1B