This Panel is marked as Internal
Early onset pancytopenia 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 20 panels
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal recessive 5, 615190
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis Congenita, Autosomal Dominant, 4
- Dyskeratosis Congenita, Autosomal Recessive, 5
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- Complete
- Panels with this gene
-
- Pulmonary fibrosis familial
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited predisposition to acute myeloid leukaemia (AML)
- Fetal anomalies
- Childhood interstitial lung disease
- Early onset or syndromic epilepsy
- Haematological malignancies for rare disease
- Intellectual disability
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Gastrointestinal epithelial barrier disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
- Cytopenia - NOT Fanconi anaemia
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RTEL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list