This Panel is marked as Internal
Undiagnosed neurocutaneous 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
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 5, 615190
- Dyskeratosis congenita, autosomal dominant 4, 615190
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- Complete
- 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
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)RTEL1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)RTEL1 was created by rfoulger