Polycystic liver 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
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.Created: 12 Mar 2019, 11:28 a.m.
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
-
- Expert Review Amber
- NHS GMS
- NHS GMS
- 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
-
- 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
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Intellectual disability
- 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
12 Mar 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rtel1 has been classified as Amber List (Moderate Evidence).
12 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RTEL1 was added gene: RTEL1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 28495916 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)