RTEL1

regulator of telomere elongation helicase 1
OMIM: 608833
PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
R-numbers: R91
Signed-off version 1.29
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 Dyskeratosis congenita, 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 615190 DC type 4 and 5, Dyskeratosis congenita, autosomal dominant 4, 615190, Dyskeratosis congenita, autosomal recessive 5, 615190, Dyskeratosis congenita, autosomal recessive 5 615190
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190, Dyskeratosis congenita, 5 615190, Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients, Combined immunodeficiencies with associated or syndromic features
R-numbers: R359
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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