RTEL1 gene related symptoms and diseases

All the information presented here about the RTEL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RTEL1 gene

Symptoms // Phenotype % Cases
Pulmonary fibrosis Very Common - Between 80% and 100% cases
Bone marrow hypocellularity Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Abnormality of skin pigmentation Common - Between 50% and 80% cases
Carious teeth Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RTEL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nail dystrophy
  • Cerebellar hypoplasia
  • Thrombocytopenia
  • Immunodeficiency
  • Intrauterine growth retardation
  • Anemia
  • Growth delay
  • Microcephaly

And 176 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RTEL1 gene

Here you will find a list of rare diseases related to the RTEL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IDIOPATHIC PULMONARY FIBROSIS

Alternate names

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa, uip, usual interstitial pneumonia, interstitial pneumonitis, usual, idiopathic pulmonary fibrosis, familial, cryptogenic fibrosing alveolitis, fibrosing alveolitis, cryptogenic, fibrocystic pulmonary dysplasia

Description

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


More info about IDIOPATHIC PULMONARY FIBROSIS

SOURCES: OMIM ORPHANET

DYSKERATOSIS CONGENITA

Alternate names

DYSKERATOSIS CONGENITA Is also known as dkc, dc, dyskeratosis congenita, scoggins type, zinsser-engman-cole syndrome

Description

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Most common symptoms of DYSKERATOSIS CONGENITA

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about DYSKERATOSIS CONGENITA

SOURCES: ORPHANET MESH OMIM

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Description

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

SOURCES: OMIM

HOYERAAL-HREIDARSSON SYNDROME

Alternate names

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome, zinsser-cole-engman syndrome

Description

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

Most common symptoms of HOYERAAL-HREIDARSSON SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about HOYERAAL-HREIDARSSON SYNDROME

SOURCES: ORPHANET OMIM

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3

Most common symptoms of PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3

  • Pneumonia
  • Abnormal lung morphology
  • Bone marrow hypocellularity
  • Pulmonary fibrosis


More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3

SOURCES: OMIM


Potential gene panels for RTEL1 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel
United States.

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel
United States.

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel
United States.

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel
United States.

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel
United States.

Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3

More info about this panel
United States.

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

More info about this panel
United States.

Dyskeratosis Congenita panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita panel by next-generation sequencing (NGS) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

More info about this panel
United States.

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel
United States.

Dyskeratosis Congenita Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dyskeratosis Congenita Deletion/Duplication Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

More info about this panel
United States.

RTEL1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the RTEL1 gene.

More info about this panel
United States.

RTEL1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the RTEL1 gene.

More info about this panel
United States.

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel
United States.

Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 POT1 ACD NAF1 WRAP53

More info about this panel
United States.

Comprehensive Hereditary Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72

More info about this panel
United States.

Hereditary Leukemia and Breast Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9

More info about this panel
United States.

Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) that also includes the following genes: RUNX1 SRP72 TERC TERT TP53 IKZF1 SAMD9 SAMD9L RTEL1 CEBPA

More info about this panel
United States.

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel
United States.

Dyskeratosis congenita 5 AR (sequence analysis of RTEL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RTEL1 gene.

More info about this panel
Portugal.

Dyskeratosis congenita (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Dyskeratosis congenita (NGS panel for 8 genes) that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 DKC1

More info about this panel
Portugal.

Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 CTC1 DKC1 PARN

More info about this panel
United States.

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel
United States.

Dyskeratosis Congenita (DC) via RTEL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RTEL1 gene.

More info about this panel
United States.

Dyskeratosis congenita NGS panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita NGS panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel
United States.

Dyskeratosis congenita Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita Deletion / Duplication panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel
United States.

Dyskeratosis congenita Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dyskeratosis congenita Comprehensive panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel
United States.

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel
Germany.

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel
Germany.

Dyskeratosis congenita Panel Panel

Germany.

By CeGaT GmbH Dyskeratosis congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 DKC1

More info about this panel
Germany.

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel
Germany.

Antibody deficiencies Panel Panel

Germany.

By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1

More info about this panel
Germany.

NGS Panel for Dyskeratosis congenita Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Dyskeratosis congenita that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1

More info about this panel
Spain.

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel
United States.

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel
United States.

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel
United States.

RTEL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RTEL1 gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

Dyskeratosis Congenita Panel Panel

Finland.

By Blueprint Genetics Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 DCLRE1B WRAP53 USB1 CTC1

More info about this panel
Finland.

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel
Finland.

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel
Finland.

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel
Finland.

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel
Finland.

Interstitial Lung Disease Panel Panel

Finland.

By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT

More info about this panel
Finland.

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel
United States.

DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE) that also includes the following genes: NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1

More info about this panel
Spain.

DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT) that also includes the following genes: TERT TINF2 RTEL1

More info about this panel
Spain.

DYSKERATOSIS CONGENITA Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2

More info about this panel
Spain.

PULMONARY FIBROSIS, IDIOPATHIC Panel

Spain.

By Laboratorio de Genetica Clinica SL PULMONARY FIBROSIS, IDIOPATHIC that also includes the following genes: SFTPA2 SFTPC TERC TERT RTEL1 MUC5B PARN

More info about this panel
Spain.

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
Canada.

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