ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Peroxisome Biogenesis Disorder |
untyped
Pathogenic Variants
|
|
| Zellweger Spectrum Disorders |
untyped
Autosomal recessive causal pathogenic variant. PEX3 is one of the three mammalian peroxins required for peroxisomal membrane protein insertion, so its loss removes the peroxisomal membrane rather than only its matrix cargo.
|
mechanism: Peroxisomal Membrane Assembly Failure
subtype: PEX3-ZSD
scoped to subtype: PEX3-ZSD
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| peroxisome biogenesis disorder MONDO:0019234 | AR | Definitive 2019-11-01 |
Peroxisome Biogenesis Disorder
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.