Ductal plate malformation
Gene: RTEL1EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels
1 review
Ivone Leong (Genomics England Curator)
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.Created: 26 Nov 2018, 2:50 p.m.
This is confirmed to cause Dyskeratosis congenita on Gene2Phenotype. There are 3 people from 3 different families who have cirrhosis; however, most of these mutations are missense. Also, all 20 variants reported on OMIM have no liver phenotype. There is also liver cirrhosis phenotype that might be with ductal plate malformation. Therefore, promoted gene from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 5 (615190)
- Dyskeratosiscongenita, autosomal dominant 4 (615190)
- 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
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RTEL1. Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: This is confirmed to cause Dys
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RTEL1 were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to RTEL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RTEL1 was added gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)