Pulmonary fibrosis familial
Gene: RTEL1
RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Applicant review states, 'There is extensive phenotypic and genotypic overlap with other telomeropathies, such as dyskeratosis congenita and Hermansky-Pudlak Syndrome, all of which have pulmonary fibrosis as a clinical feature. Some of the genes included in the panel have an autosomal recessive inheritance pattern in those disorders, but individuals who are heterozygous for pathogenic variants in the genes may develop later-onset pulmonary fibrosis.'Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:03 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Intellectual disability
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
History Filter Activity
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: RTEL1 was added gene: RTEL1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23959892; 25607374; 25848748 Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373