This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Dyskeratosis Congenita, Autosomal Dominant, 4
- Dyskeratosis Congenita, Autosomal Recessive, 5
- Dyskeratosis congenita
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- Childhood interstitial lung disease
- Polycystic liver disease
- Haematological malignancies for rare disease
- Ductal plate malformation
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Gastrointestinal epithelial barrier disorders
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RTEL1 were set to Dyskeratosis Congenita, Autosomal Dominant, 4; Dyskeratosis Congenita, Autosomal Recessive, 5
29 Oct 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Oct 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RTEL1 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RTEL1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN