|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA.
|
30201457 |
2018 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease.
|
28275245 |
2017 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree.
|
26456105 |
2016 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The p.E66Q variant of the α-galactosidase A gene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan.
|
24718812 |
2015 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.
|
23724928 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In terms of genetic abnormalities, the E66Q mutation has recently become a topic of discussion, and although doubts have been expressed over whether or not it is the gene responsible for Fabry disease, there is still a strong possibility that it is a functional genetic polymorphism.
|
24189976 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These two patients with the E66Q mutation were excluded because of the possibility of polymorphism; the prevalence of Fabry disease in the HD population was finally calculated to be 0.11%.
|
22563919 |
2012 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease.
|
22695894 |
2012 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
An electron microscopic examination did not reveal any pathological changes specific to Fabry disease in biopsied skin tissues from a male subject with the E66Q enzyme.
|
22305854 |
2012 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
|
22874111 |
2012 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |