Aliases: TIN2.
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 |
|---|---|---|
| Dyskeratosis Congenita | causative germline |
mechanism: Impaired Telomere Maintenance
subtype: TINF2
scoped to subtype: TINF2
|
| Familial Nonmedullary Thyroid Carcinoma | susceptibility germline |
subtype: Long Telomere Syndrome PTC
scoped to subtype: Long Telomere Syndrome PTC
|
| Revesz Syndrome | causative germline |
mechanism: Impaired Shelterin-Mediated Telomere Maintenance; TINF2 Exon 6 Cluster Variant
animal model: TIN2(DC) knock-in mouse (K280E equivalent)
|
| Inherited Aplastic Anemia |
untyped
Shelterin component, mutated in autosomal dominant DC with severe phenotype
germline
|
scoped to subtype: Dyskeratosis Congenita
|
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 |
|---|---|---|---|
| dyskeratosis congenita, autosomal dominant 3 MONDO:0013522 | AD | Definitive 2025-02-20 |
Dyskeratosis Congenita
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.