Aliases: NTG, KIAA0567, FLJ12460, NPG, MGM1.
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 Optic Atrophy | causative germline loss of function |
mechanism: OPA1 Haploinsufficiency
treatment: STK-002 experimental OPA1 splice modulation
|
| Autosomal Dominant Optic Atrophy Plus | causative |
mechanism: Mitochondrial DNA Instability and Secondary mtDNA Deletions; OPA1 Loss of Function and Impaired Mitochondrial Fusion
|
| Behr Syndrome | causative germline |
mechanism: Aberrant OPA1 Splicing; Biallelic OPA1 Variants; Reduced OPA1 Protein Abundance
treatment: OPA1 Expression Modulation (Investigational)
|
| Mitochondrial DNA Depletion Syndrome 14B (Cardioencephalomyopathic Type) | causative germline loss of function |
mechanism: Destabilization of the OPA1 Dynamin-like GTPase
discussion: (unnamed)
|
| Auditory Neuropathy |
untyped
Causative
|
mechanism: Auditory Nerve Dyssynchrony
|
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 2021-06-14 |
Leigh Syndrome
not named
|
| OPA1-related optic atrophy with or without extraocular features MONDO:0800181 | SD | Definitive 2022-11-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.