Aliases: RECQL2, RECQ3.
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 |
|---|---|---|
| Familial Nonmedullary Thyroid Carcinoma | causative germline | |
| Werner Syndrome |
untyped
Causative
|
mechanism: Restored Partial WRN Expression and Nuclear Localization; WRN Helicase-Exonuclease Loss of Function; WRN-108-Directed Exon 27 Skipping; c.3139-1G>C-Dependent WRN Pre-mRNA Missplicing
treatment: WRN-108 Genotype-Restricted Exon-Skipping ASO
|
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 |
|---|---|---|---|
| Werner syndrome MONDO:0010196 | AR | Definitive 2018-10-09 |
Werner Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.