rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene.
|
31582009 |
2019 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation.
|
30827762 |
2019 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency.
|
30244162 |
2019 |
rs1800730
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians.
|
30195625 |
2018 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200.
|
30514216 |
2018 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic and clinical data from a total of 156 patients with non-HFE HH was extracted from 53 publications and compared with data from 984 patients with <i>HFE</i>-p.C282Y homozygous HH from the QIMR Berghofer Hemochromatosis Database.
|
29743178 |
2018 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using our findings, we developed an evidence-based laboratory testing algorithm based on a TS ≥45%, a SF ≥1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study.
|
28019068 |
2017 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
For HH, WGS identified a known disease variant (p.C282Y) in HFE of an affected female.
|
28228131 |
2017 |
rs1167115018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH.
|
27173269 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hence, homozygosity for p.C282Y is not sufficient to diagnose HH.
|
26153218 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH.
|
27173269 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The predicted prevalence of HFE HH and the p.Cys282Tyr mutation closely matched previous estimates from similar populations.
|
26633544 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The modified IAI is a fairly good predictor in non-PPI-using homozygous C282Y HH patients, to differentiate who needs ≥3 maintenance phlebotomies per year.
|
26992127 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We conducted a retrospective study of patients with HH homozygous for the C282Y mutation by using the database and medical records from Atrium Medical Centrum Parkstad in Brunssum, The Netherlands.
|
26240005 |
2016 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To investigate the association between mutation of HFE (the principal pathogenic gene in hereditary haemochromatosis) and risk of cancer, we conducted a meta-analysis of all available case-control or cohort studies relating to two missense mutations, C282Y and H63D mutations.
|
26893171 |
2016 |
rs1800562
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
|
26153218 |
2016 |
rs1800730
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20).
|
27173269 |
2016 |
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |