Combined Immunodeficiency

Gene: RTEL1

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.
--------
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.
---------
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.
--------
Green- All phenotypes

Created: 26 Aug 2021, 1:47 a.m. | Last Modified: 26 Aug 2021, 1:47 a.m.

Panel Version: 0.378

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

• 20301779
• 23329068
• 15210109
• 23453664
• 19461895
• 25848748
• 25607374