This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608833
- Clinvar variants
- Variants in RTEL1
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Polycystic liver disease
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood solid tumours
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Early onset or syndromic epilepsy
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: RTEL1 was added gene: RTEL1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RTEL1 was set to Unknown