Familial pulmonary fibrosis
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
2 reviews
Philip Molyneaux (Imperial College)
Alice Gardham (Genomics England)
Many reported cases. Entry criteria suggests testingCreated: 8 Feb 2017, 2:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373
Set publications
Alice Gardham (Genomics England)Publications for RTEL1 were set to 25848748
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for RTEL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)RTEL1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing