Gene: HEXB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 23010210

2013
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. 23759947

2013
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). 20926324

2011
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. 20798201

2010
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Molecular and structural studies of the GM2 gangliosidosis 0 variant. 12166653

2002
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case. 9562328

1998
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. 8950198

1996
dbSNP: rs121907983
rs121907983
HEXB
A 0.810 GeneticVariation CLINVAR Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme. 8357844

1993
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. 25736553

2015
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. 23127958

2013
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. 24263030

2013
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease. 21150067

2011
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499

2007
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 7557963

1995
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140

1992
dbSNP: rs28942073
rs28942073
HEXB
T 0.800 CausalMutation CLINVAR An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. 1386607

1992
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. 29448188

2018
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. 24613245

2014
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 23010210

2013
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579

2013
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. 21483992

2011
dbSNP: rs121907986
rs121907986
HEXB
T 0.710 CausalMutation CLINVAR Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients. 19823769

2010