Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we have characterized 34 enzymatically confirmed TSD families to investigate the presence of novel as well as known variants in HEXA gene.
|
31388111 |
2019 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in HEXA that impair β-hexosaminidase A (Hex A) enzyme activity cause Tay-Sachs Disease (TSD), a severe autosomal-recessive neurodegenerative disorder.
|
31293106 |
2019 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene.
|
31076878 |
2019 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G<sub>M2</sub> gangliosides.
|
30506202 |
2019 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.
|
28503624 |
2019 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase.
|
30220252 |
2018 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is a lethal lysosomal storage disease (LSD) caused by mutations in the HexA gene, which can lead to deficiency of β-hexosaminidase A (HexA) activity and consequent accumulation of its substrate, GM2 ganglioside.
|
30341570 |
2018 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of deletion/duplication in HEXA gene providing a new insight into the molecular basis of TSD and use of MLPA assay for detecting large copy number changes in the HEXA gene.
|
29973161 |
2018 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment).
|
29795570 |
2018 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Late-onset Tay-Sachs disease.
|
28739864 |
2017 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
|
27959697 |
2017 |
Tay-Sachs Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
|
27879213 |
2016 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
|
27682588 |
2016 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.
|
27033294 |
2016 |
Tay-Sachs Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.
|
27033294 |
2016 |
Tay-Sachs Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
|
27682588 |
2016 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing.
|
27362553 |
2016 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
|
25557439 |
2015 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
|
25287655 |
2015 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.
|
25606403 |
2014 |
Tay-Sachs Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Three novel mutations in Iranian patients with Tay-Sachs disease.
|
24518553 |
2014 |