Previous symbols: C19orf79.
PET100 (PET100 cytochrome c oxidase chaperone) is named by 1 disorder entry.
PET100 is a small, non-catalytic Complex IV assembly chaperone. ai-gene-review asserts no molecular function and places it in mitochondrial respiratory chain complex IV assembly in the mitochondrial inner membrane.
PET100-Related COX Deficiency types PET100 as causative with germline variants. The gene sits on PET100 Loss and Failed Complex IV Assembly, which conforms to complex_iv_assembly_deficiency. The KB and ai-gene-review share mitochondrial respiratory chain complex IV assembly.
ClinGen classifies PET100 for 2 diseases; the one with no matching dismech entry is mitochondrial disease.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; 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 |
|---|---|---|
| PET100-Related COX Deficiency | causative germline |
mechanism: PET100 Loss and Failed Complex IV Assembly
|
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 |
|---|---|---|---|
| Leigh syndrome MONDO:0009723 | AR | Moderate 2019-05-20 |
Leigh Syndrome
not named
|
| mitochondrial disease MONDO:0044970 | AR | Definitive 2024-10-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.