Hereditary Pigmentary Disorders

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 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dyskeratosis congenita, autosomal dominant 4
5 individuals from 3 families reported with mono-allelic variants in RTEL1; mouse model
Heterozygous missense and nonsense variants at highly conserved residue in helicase domain reported
The most common features present in these individuals were short telomeres and bone marrow failure, and thrombocytopaenia.
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Dyskeratosis congenita, autosomal recessive 5
More than 10 unrelated families with bi-allelic RTEL1 variants displaying DKCB5 phenotype; mouse model
Homozygous and compound heterozygous (missense, nonsense, splice site and deletion) variants that result in a loss of function have been reported.
Individuals typically present with short telomeres, bone marrow failure, severe B-cell immunodeficiency, microcephaly, cerebellar hypoplasia and intrauterine and extrauterine growth restriction.
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Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
15 unrelated individuals reported with mono-allelic RTEL1 variants displaying PFBMFT3 phenotype.
Heterozygous (deletion, missense, nonsense, splice site) variants have been reported leading to premature stop codons or alteration of a highly conserved domain residue.
Individuals presented with shortened telomeres, pneumonia and adult-onset pulmonary fibrosis.
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Green- All phenotypes
Created: 26 Aug 2021, 6:48 a.m. | Last Modified: 26 Aug 2021, 6:48 a.m.
Panel Version: 0.8956

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • dyskeratosis congenita MONDO:0015780
OMIM
608833
Clinvar variants
Variants in RTEL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rtel1 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rtel1 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RTEL1 was added gene: RTEL1 was added to Hereditary Pigmentary Disorders. Sources: Literature Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 20301779; 23329068; 15210109; 23453664; 19461895; 25848748; 25607374 Phenotypes for gene: RTEL1 were set to dyskeratosis congenita MONDO:0015780