RTEL1

regulator of telomere elongation helicase 1

2 disorders 2 causative 20q13.33 gene with protein product

HGNC:15888 Monarch NCBI Gene 51750 ENSG00000258366 UniProt Q9NZ71 OMIM 608833

Previous symbols: C20orf41. Aliases: bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL.

In the knowledge base · computed from kb/ at build time

Disorders

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: PFBMFT3; RTEL1 scoped to subtype: PFBMFT3, RTEL1
Idiopathic Pulmonary Fibrosis	causative	mechanism: Alveolar epithelial telomere dysfunction

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 MONDO:0014613	SD	Definitive 2025-12-16	Dyskeratosis Congenita causative

Mechanism modules · computed from kb/

telomere_attrition via Idiopathic Pulmonary Fibrosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.