SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.140 GeneticVariation disease BEFREE Accordingly, 2 major phenotypes have been linked to <i>SPTBN2</i>: pathogenic heterozygous in-frame deletions and missense variants result in an adult-onset, slowly progressive ADCA (SCA5) through a dominant negative effect, whereas biallelic loss-of-function variants cause SCAR14, an allelic disorder characterized by infantile-onset cerebellar ataxia and cognitive impairment. 31617442 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.140 GeneticVariation 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
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.140 GeneticVariation disease BEFREE Heterozygous mutations in the gene encoding β-III spectrin (SPTBN2) underlie SCA type-5 whereas homozygous mutations cause spectrin associated autosomal recessive ataxia type-1 (SPARCA1), an infantile form of ataxia with cognitive impairment. 26821241 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.140 Biomarker disease BEFREE These data provide the first evidence that β-III spectrin plays an important role in cortical brain development and cognition, in addition to its function in the cerebellum; and we conclude that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1). 23236289 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.140 Biomarker disease HPO