This Panel is marked as Internal
Anaemias and red cell disorders
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
2 reviews
Helen Brittain (Genomics England Curator)
Biallelic mutations seen in 6/23 cases in above PMID. Heterozygous mutation also reported.Created: 16 Feb 2017, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 5 615190; 20q13.33 Dyskeratosis congenita, autosomal dominant 4 615190
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Dyskeratosis Congenita, Autosomal Dominant, 4
- Dyskeratosis Congenita, Autosomal Recessive, 5
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal recessive 5, 615190
- Dyskeratosis congenita, autosomal dominant 4, 615190
- 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
- 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
22 Jul 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RTEL1 was created by ellenmcdonagh