Gastrointestinal epithelial barrier disorders
Gene: RTEL1
RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 20 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Two cases listed on OMIM noting Colitis in patients with Dyskeratosis Congenita with variants in this gene. With this evidence and the expert review green, promoting this to high evidence.Created: 25 Jul 2018, 4:14 p.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Enteropathy reportedCreated: 13 Oct 2016, 8:53 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green by expert review, and high level of evidence for association with Dyskeratosis congenita, autosomal dominant 4 and Dyskeratosis congenita, autosomal recessive 5 (confirmed DD gene), though unsure whether these diseases always feature colitis/inflammatory bowel disease.Created: 13 Oct 2016, 2:27 p.m.
Neil shah (GOSH)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Early onset or syndromic epilepsy
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Intellectual disability
- DDG2P
History Filter Activity
25 Jul 2018, Gel status: 3
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 3
Set mode of inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for gene: RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Jul 2018, Gel status: 3
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: rtel1 has been classified as Green List (High Evidence).
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)RTEL1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)RTEL1 was created by Olivia Niblock