×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
1825014 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
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
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
9272736 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
14566483 2003
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
7551830 1995
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Late-onset Tay-Sachs disease presenting as a childhood stutter.
19091716 2009
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
2973464 1988
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
9851891 1998
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Eight novel mutations in the HEXA gene.
12180151 2003
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
1532289 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
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
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
20363167 2010
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
9222766 1997
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
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
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8490625 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
18490185 2008
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
2522679 1989
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD ) in three unrelated nonconsanguineous Chinese families.
1301190 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
1387685 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Biochemical consequences of mutations causing the GM2 gangliosidoses.
10571007 1999
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
8328462 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
1302612 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
1831451 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
10083731 1999