Variant: rs387906309 

    present in Gene: HEXA
    present in Chromosome: 15
    Position on Chromosome: 72346579
    Alleles of this Variant: -/GATA

rs387906309 in HEXA gene and Abnormal thalamic MRI signal intensity PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs387906309 in HEXA gene and Cherry red spot of the macula PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs387906309 in HEXA gene and Developmental regression PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs387906309 in HEXA gene and Electroencephalogram abnormal PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs387906309 in HEXA gene and Hepatomegaly PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

rs387906309 in HEXA gene and Hyperacusis PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs387906309 in HEXA gene and Muscle hypotonia PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

rs387906309 in HEXA gene and Overgrowth PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

rs387906309 in HEXA gene and Seizures PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs387906309 in HEXA gene and Tay-Sachs Disease PMID 11463833 2001 Nonsense-mediated decay of human HEXA mRNA.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 1301938 1992 A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 2848800 1988 The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

PMID 24374108 2014 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.

PMID 14727180 2004 Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

PMID 27033294 2016 Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.

PMID 20672374 2010 Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

PMID 16352452 2006 Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

PMID 1307230 1992 The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

PMID 28503624 2019 Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

PMID 22441121 2012 Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

PMID 25287655 2015 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.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 1830584 1991 Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.

PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

PMID 22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 24940364 2014 Molecular study of lysosomal storage disorders in India.

PMID 10571007 1999 Biochemical consequences of mutations causing the GM2 gangliosidoses.

PMID 24518553 2014 Three novel mutations in Iranian patients with Tay-Sachs disease.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.