Genomics England

RTEL1

regulator of telomere elongation helicase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult solid tumours cancer susceptibility 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
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	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
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373