RTEL1

regulator of telomere elongation helicase 1
OMIM: 608833, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green RTEL1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hoyeraal Hreidarsson Syndrome Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5
Green RTEL1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma
Green RTEL1 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list
Green RTEL1 in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Combined immunodeficiencies with associated or syndromic features Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 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 Dyskeratosis congenita, 5 615190
Green RTEL1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
Green RTEL1 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	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
Amber RTEL1 in Ductal plate malformation Version 1.31	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190) Dyskeratosiscongenita, autosomal dominant 4 (615190)
Amber RTEL1 in Polycystic liver disease Level 2: Gastrohepatology Version 1.32 Latest signed off version: v1.26 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190) Dyskeratosiscongenita, autosomal dominant 4 (615190)
Amber RTEL1 in Inherited predisposition to acute myeloid leukaemia (AML) Level 2: Haematology Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Research Literature Phenotypes Dyskeratosis congenita, autosomal dominant 4, OMIM:615190 Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
Green RTEL1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 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 RTEL1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 5 615190 Dyskeratosis congenita, autosomal dominant 4 615190
Green RTEL1 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	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
Green RTEL1 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Oral and GI squamous cell carcinoma
Green RTEL1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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 RTEL1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Green RTEL1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
Red RTEL1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Familial Progressive Myoclonus Epilepsy
Green RTEL1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Green RTEL1 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373

RTEL1

19 panels

Green RTEL1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Sources

Phenotypes

Green RTEL1 in Haematological malignancies for rare disease

Sources

Phenotypes

Green RTEL1 in Gastrointestinal epithelial barrier disorders

Sources

Green RTEL1 in COVID-19 research

Sources

Phenotypes

Green RTEL1 in Familial pulmonary fibrosis

Sources

Phenotypes

Green RTEL1 in Childhood solid tumours

Sources

Phenotypes

Amber RTEL1 in Ductal plate malformation

Sources

Phenotypes

Amber RTEL1 in Polycystic liver disease

Sources

Phenotypes

Amber RTEL1 in Inherited predisposition to acute myeloid leukaemia (AML)

Sources

Phenotypes

Green RTEL1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green RTEL1 in Cytopenias and congenital anaemias

Sources

Phenotypes

Green RTEL1 in Adult solid tumours cancer susceptibility

Sources

Phenotypes

Green RTEL1 in Haematological malignancies cancer susceptibility

Sources

Phenotypes

Green RTEL1 in Cytopenia - NOT Fanconi anaemia

Sources

Phenotypes

Green RTEL1 in Fetal anomalies

Sources

Phenotypes

Green RTEL1 in DDG2P

Sources

Phenotypes

Red RTEL1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green RTEL1 in Intellectual disability

Sources

Phenotypes

Green RTEL1 in Pulmonary fibrosis familial

Sources

Phenotypes