RTEL1 Chromosome 20
Regulator of telomere elongation helicase 1
Upload your DNA to see your personal genotypes for variants in RTEL1.
What This Gene Does
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
DEAH-box helicases
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000258366
Associated Conditions (20)
Dyskeratosis congenita
autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure
Telomere-related
3
Inborn genetic diseases
RTEL1-related disorder
autosomal dominant 1
Interstitial lung disease 2
X-linked
autosomal recessive 1
Combined oxidative phosphorylation defect type 24
Action myoclonus-renal failure syndrome
Abnormality of blood and blood-forming tissues
Pulmonary fibrosis
Telomere syndrome
See cases
autosomal dominant 4
Acute myeloid leukemia
Adams-Oliver syndrome 3
Key Variants
RS1046172136
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1046295138
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Health Risk
RS113684274
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Health Risk
RS116247954
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1207345139
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1224602711
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Health Risk
RS1235107432
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1236751268
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1246091092
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Health Risk
RS1328770706
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1369065305
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS137914057
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure
Health Risk
All Variants (320)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1182423172 | Health Risk | Likely pathogenic | — |
| RS1205986855 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS1263776141 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1281899571 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1345874407 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1370553261 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS1421904176 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1444392809 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS1555811386 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS1555811966 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555812178 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555812228 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555812834 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555813123 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555814044 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555899096 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS1555899640 | Health Risk | Likely pathogenic | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS1555899773 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1555901000 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1569085580 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS1601163764 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2090026700 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2090461817 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2090573767 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2090696366 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2090699833 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2090789401 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2145411185 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2145412626 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2145421181 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2145431062 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2145448526 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2145471794 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2145476311 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2145479688 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2145480981 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2146149228 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2516992827 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2516994367 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2516994656 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2516997347 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2516997767 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2516998156 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2516999509 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2517010029 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |
| RS2517017153 | Health Risk | Likely pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS2517039725 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2517040329 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita |
| RS2517040332 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 |
| RS2517068279 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure |