Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.630 | GeneticVariation | disease | BEFREE | Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in SPTBN2 have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). | 31066025 | 2019 | ||||
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0.630 | Biomarker | disease | GENOMICS_ENGLAND | To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported. | 28636205 | 2017 | ||||
|
0.630 | Biomarker | disease | BEFREE | To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported. | 28636205 | 2017 | ||||
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0.630 | GermlineCausalMutation | disease | ORPHANET | Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. | 23236289 | 2012 | ||||
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0.630 | GeneticVariation | disease | BEFREE | In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome. | 23236289 | 2012 | ||||
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0.630 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
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0.630 | GeneticVariation | disease | CLINVAR | |||||||
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0.630 | CausalMutation | disease | CLINVAR |