Aliases: POLG1, POLGA.
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 |
|---|---|---|
| Alpers-Huttenlocher Syndrome | causative |
mechanism: Biallelic Pathogenic POLG Variation
|
| Autosomal Dominant Progressive External Ophthalmoplegia | causative germline |
mechanism: Heterozygous Nuclear mtDNA-Maintenance Gene Variant
subtype: PEOA1
scoped to subtype: PEOA1
|
| Autosomal Recessive Progressive External Ophthalmoplegia 1 | causative |
mechanism: POLG Catalytic and Proofreading Deficiency
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy | causative |
scoped to subtype: MNGIE-like POLG
|
| Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis |
untyped
Biallelic (autosomal recessive) pathogenic variants in POLG, encoding the catalytic subunit of mitochondrial DNA polymerase gamma, cause SANDO and the broader POLG-related disorder spectrum through impaired mtDNA replication and accumulation of multiple mtDNA deletions and depletion.
|
mechanism: Polymerase Gamma Dysfunction and mtDNA Instability
|
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 | Limited 2021-06-30 |
Leigh Syndrome
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.