×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
CausalMutation
disease
CLINVAR
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
24009516
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
CausalMutation
disease
CLINVAR
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
23453664
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
GeneticVariation
disease
UNIPROT
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
24009516
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
GeneticVariation
disease
UNIPROT
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
23591994
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
GeneticVariation
disease
UNIPROT
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
23329068
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
GeneticVariation
disease
UNIPROT
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
23959892
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
23591994
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
23959892
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
CausalMutation
disease
CLINVAR
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
23959892
2013
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
CausalMutation
disease
CLINVAR
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.
19461895
2009
×
Entrez Id:
51750
Gene Symbol:
RTEL1
RTEL1
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
9939
Gene Symbol:
RBM8A
RBM8A
0.300
Biomarker
disease
GENOMICS_ENGLAND
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
17236129
2007
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
28099038
2017
RTEL1-TNFRSF6B
0.100
GeneticVariation
disease
CLINVAR
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
27415407
2017
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
28930861
2017
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
27418648
2016
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
27128385
2016
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.
26808564
2016
RTEL1-TNFRSF6B
0.100
GeneticVariation
disease
CLINVAR
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
25047097
2015
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
25607374
2015
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25620558
2015
RTEL1-TNFRSF6B
0.100
GeneticVariation
disease
CLINVAR
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26025130
2015
RTEL1-TNFRSF6B
0.100
GeneticVariation
disease
CLINVAR
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25620558
2015
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26025130
2015
RTEL1-TNFRSF6B
0.100
CausalMutation
disease
CLINVAR
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
25047097
2015