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 |
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 |
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 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The detection rate for homozygous C282Y HH for male patients with both SF ≥ 300 μg/L and Tsat >50% was 18.8% (52/272) and 16.3% (68/415) for female patients with both SF ≥ 200 μg/L and Tsat >40%.
|
25540266 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Familial screening revealed that her mother and maternal grandmother were also affected and, in addition, respectively heterozygous and homozygous for the hereditary haemochromatosis mutation HFE C282Y.
|
25990487 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
rs1800562
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Results revealed that the family's HH pseudodominant pattern is due to consanguineous marriage of HFE-c.845G>A carriers, and to marriage with a genetically unrelated spouse that is a -c.187G carrier.
|
26501199 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data.
|
26365338 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis.
|
26270952 |
2015 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH.
|
25457201 |
2015 |