dyskeratosis congenita, autosomal recessive 5
MONDO:0014076Mondo
Findings
No curated finding names dyskeratosis congenita, autosomal recessive 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
Definition from the Mondo Disease Ontology (MONDO:0014076), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RTEL1HGNC:15888
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · G2P · Autosomal dominant · 2026
Where it sits
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal recessive 5
- Also called
- DKCB5dyskeratosis congenita, autosomal recessive type 5