Haematological malignancies for rare disease
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Oral and GI squamous cell carcinoma
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- 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
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)RTEL1 was created by Ellen McDonagh