Gene: GLA ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients. 29867742

2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. 29982630

2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. 27142856

2016
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. 27142856

2016
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy. 23430526

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers. 23219219

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement. 23332617

2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR [Genetic and clinical study of three Chinese pedigrees with Fabry disease]. 23568732

2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013