Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
3 reviews
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hoyeraal Hreidarsson Syndrome
- Dyskeratosis congenita, autosomal dominant 4
- Dyskeratosis congenita, autosomal recessive 5
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- Complete
- 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
- Intellectual disability
- 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
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for RTEL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RTEL1 were set to Hoyeraal Hreidarsson Syndrome; Dyskeratosis congenita, autosomal dominant 4; Dyskeratosis congenita, autosomal recessive 5
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RTEL1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)RTEL1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list