1. Panels
  2. IBMDx study
  3. RTEL1
STRs in panel
Prev Next
Regions in panel
Prev Next

IBMDx study

Gene: RTEL1

Green List (high evidence)
RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations, multiple families for each MOI, mouse model.
Created: 18 Jun 2021, 8:38 a.m. | Last Modified: 18 Jun 2021, 8:38 a.m.
Panel Version: 0.294

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373

Publications

Created: 18 Jun 2021, 8:38 a.m.
Last Modified: 18 Jun 2021, 8:38 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.294

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
  • Dyskeratosis congenita, MIM# 615190
OMIM
608833
Clinvar variants
Variants in RTEL1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RTEL1 was added gene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RTEL1 was set to Unknown Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190