|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.
|
28503624 |
2019 |
|
rs387906309
|
|
Tay-Sachs Disease
|
|
0.710 |
GeneticVariation
|
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 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
|
27959697 |
2017 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.
|
27033294 |
2016 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
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 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
|
25557439 |
2015 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.
|
24374108 |
2014 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Three novel mutations in Iranian patients with Tay-Sachs disease.
|
24518553 |
2014 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Molecular study of lysosomal storage disorders in India.
|
24940364 |
2014 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
|
22441121 |
2012 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
|
20672374 |
2010 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
|
16352452 |
2006 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
|
16088929 |
2005 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
|
14727180 |
2004 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Nonsense-mediated decay of human HEXA mRNA.
|
11463833 |
2001 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Biochemical consequences of mutations causing the GM2 gangliosidoses.
|
10571007 |
1999 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
|
1301938 |
1992 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
|
1307230 |
1992 |
|
rs387906309
|
|
Tay-Sachs Disease
|
GGATA |
0.710 |
CausalMutation
|
CLINVAR |
Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.
|
1830584 |
1991 |