×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
"Tay-Sach disease with ""cherry-red spot""--first reported case in Malaysia."
22390110 2011
×
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
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
1301938 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
2141777 1990
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
2141777 1990
×
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
GeneticVariation
CLINVAR
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
1827945 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
1827945 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A null allele frequent in non-Jewish Tay-Sachs patients.
8444467 1993
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.
2970528 1988
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
1384323 1992
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
2837213 1988
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A systematic survey of loss-of-function variants in human protein-coding genes.
22344438 2012
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
1827944 1991
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
1827944 1991
×
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
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
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
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760 2013
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
GeneticVariation
CLINVAR
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
24767253 2014
×
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
24767253 2014
×
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
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
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
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
1387685 1992