RTEL1

regulator of telomere elongation helicase 1
OMIM: 608833, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green RTEL1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.18

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 1.1

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 1.59

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 1.70

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 1.13

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 Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.14
Signed off v.2.5 on 4 Mar 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

Amber RTEL1 in Ductal plate malformation


Version 1.11

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 interim


Version 1.6
Signed off v.1.4 on 4 Mar 2020

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)


Version 1.4
Signed off v.1.2 on 3 Mar 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
  • Literature
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 4 615190
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373

Green RTEL1 in Primary immunodeficiency


Version 2.379
Signed off v.2.1 on 24 Feb 2020

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 1.78

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • Dyskeratosis congenita, autosomal dominant 4 615190

Green RTEL1 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.6
Signed off v.2.2 on 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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.5
Signed off v.2.2 on 18 Feb 2020

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


Version 1.30
Signed off v.1.29 on 15 Oct 2020

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


Version 1.115
Signed off v.1.92 on 21 Aug 2020

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 2.12
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190
    • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190

    Green RTEL1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5

    Green RTEL1 in Severe Paediatric Disorders


    Version 1.20

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 4, 615190
    • Dyskeratosis congenita, autosomal recessive 5, 615190
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373