Childhood solid tumours
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Dyskeratosis congenita associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 5 615190
- 615190 DC type 4 and 5
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis congenita, autosomal recessive 5, 615190
- 615190 Dyskeratosis congenita
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RTEL1 was added gene: RTEL1 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664; 23329068; 23959892; 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3