Childhood interstitial lung disease
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
RTEL1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #616373) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373
- pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
- Fetal anomalies
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- COVID-19 research
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: RTEL1 was added gene: RTEL1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RTEL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613