Previous symbols: IOSCA, C10orf2. Aliases: PEO, PEO1, TWINKLE, FLJ21832, TWINL.
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 |
|---|---|---|
| Autosomal Dominant Progressive External Ophthalmoplegia | causative germline |
mechanism: Heterozygous Nuclear mtDNA-Maintenance Gene Variant
subtype: PEOA3
scoped to subtype: PEOA3
|
| Perrault Syndrome | causative germline |
mechanism: Biallelic Loss of Mitochondrial Gene-Expression and Proteostasis Factors; Mitochondrial DNA Maintenance Failure
subtype: PRLTS5
scoped to subtype: PRLTS5
|
| Mitochondrial DNA Depletion Syndrome 7 |
untyped
Biallelic recessive pathogenic variants in TWNK (Twinkle helicase)
|
mechanism: Impaired Twinkle Helicase Function and mtDNA Replication
|
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 |
|---|---|---|---|
| Perrault syndrome 5 MONDO:0014504 | AR | Definitive 2026-01-21 |
Perrault Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.