Aliases: POLE1.
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 |
|---|---|---|
| Constitutional Mismatch Repair Deficiency | modifier somatic | |
| FILS Syndrome | causative germline |
mechanism: Reduced DNA Polymerase Epsilon
|
| Endometrial Carcinoma |
untyped
Exonuclease domain mutation
|
mechanism: POLE Proofreading Defect and Ultramutation
|
| Ovarian Endometrioid Carcinoma |
untyped
Exonuclease-domain ultramutation
|
|
| Endometrial Endometrioid Adenocarcinoma | no genetic record |
mechanism: POLE Proofreading Defect and Ultramutation
|
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 |
|---|---|---|---|
| POLE-related polyposis and colorectal cancer syndrome MONDO:0100287 | AD | Definitive 2023-07-05 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.