This Panel is marked as Deleted
Immunological disorders Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- Panels with this gene
-
- Pulmonary fibrosis familial
- Cytopenia - NOT Fanconi anaemia
- 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
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Intellectual disability
- Gastrointestinal epithelial barrier disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)RTEL1 was added to Immunological disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)RTEL1 was created by Sarah Leigh