×
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
GeneticVariation
BEFREE
We have now identified two additional mutations within exon 5 of the HEXA gene that account for the remaining TSD alleles in the patient and carriers.
1322637 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
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
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
Biomarker
BEFREE
Generation of HEXA -deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
27879213 2016
×
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
BEFREE
In the last decade, the cloning of the HEXA gene and the identification of more than 80 associated TSD -causing mutations has permitted molecular diagnosis in many instances.
10464605 1998
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
BEFREE
We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.
1384323 1992
×
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
BEFREE
In particular, the mutations in the human HEXA gene that cause the infantile Tay-Sachs disease have been studied using MALDI-MS to demonstrate the feasibility of this technique for use in clinical and diagnostic analysis.
9218358 1997
×
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
Biomarker
CTD_human
31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.
11392526 2001
×
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
GeneticVariation
BEFREE
Tay-Sachs disease (TSD ) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency.20100466 2010
×
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
GeneticVariation
UNIPROT
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
22723944 2012
×
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
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Eight novel mutations in the HEXA gene.
12180151 2003
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
Biomarker
GENOMICS_ENGLAND
Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.
14972652 2004
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
UNIPROT
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.27682588 2016
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
25557439 2015