RTEL1-TNFRSF6B

RTEL1-TNFRSF6B readthrough (NMD candidate)

Basic information

Region (hg38): 20:63659300-63698684

Links

ENSG00000026036 ∙ NCBI:100533107 ∙ ∙ HGNC:44095 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RTEL1-TNFRSF6B gene.

• Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (1475 variants)
• Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5 (723 variants)
• not provided (591 variants)
• Dyskeratosis congenita (421 variants)
• Inborn genetic diseases (209 variants)
• Dyskeratosis congenita, autosomal recessive 5 (199 variants)
• not specified (95 variants)
• Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (52 variants)
• RTEL1-related condition (33 variants)
• Dyskeratosis congenita, autosomal dominant 1 (27 variants)
• Pulmonary fibrosis (18 variants)
• Interstitial lung disease 2 (11 variants)
• TNFRSF6B-related condition (8 variants)
• Telomere syndrome (3 variants)
• Dyskeratosis congenita, X-linked (2 variants)
• Microcephaly (2 variants)
• See cases (2 variants)
• Dyskeratosis congenita, autosomal dominant 4 (2 variants)
• Action myoclonus-renal failure syndrome (1 variants)
• Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 (1 variants)
• Long QT syndrome (1 variants)
• RTEL1-related Disorders (1 variants)
• Immunodeficiency (1 variants)
• - (1 variants)
• Acute myeloid leukemia (1 variants)
• Abnormality of blood and blood-forming tissues (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RTEL1-TNFRSF6B gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	10	49	105	164	5	333
Total	10	49	105	164	5

Highest pathogenic variant AF is 0.0000723494

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: DNA replication;DNA repair;DNA recombination;regulation of double-strand break repair via homologous recombination;DNA duplex unwinding;negative regulation of DNA recombination;telomeric loop disassembly;negative regulation of t-circle formation
• Cellular component: nucleus
• Molecular function: DNA binding;ATP-dependent DNA helicase activity;ATP binding;metal ion binding;4 iron, 4 sulfur cluster binding;DNA polymerase binding