RTEL1 - Gene browser

RTEL1

regulator of telomere elongation helicase 1

HCNC Approved Symbol: RTEL1 (HGNC:15888)
Genomic Coordinates: 20:63,657,810 - 63,696,253 (20q13.33)
Synonyms: bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL, C20orf41
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the RTEL1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

016
Patient count

Pulmonary fibrosis: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Interstitial lung disease: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Liver cirrhosis: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Bone marrow failure: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Dyskeratosis congenita: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)