Adult solid tumours cancer susceptibility

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 16 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Dyskeratosis congenita associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.
Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • 615190 DC type 4 and 5
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • 615190 Dyskeratosis congenita
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
OMIM
608833
Clinvar variants
Variants in RTEL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: RTEL1 was added gene: RTEL1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3