Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 20 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
-
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Early onset or syndromic epilepsy
- Fetal anomalies
- Childhood interstitial lung disease
- Polycystic liver disease
- Haematological malignancies for rare disease
- Intellectual disability
- Ductal plate malformation
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- Gastrointestinal epithelial barrier disorders
- DDG2P
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
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