Condition: Cerebellar Ataxia


rs1114167423 in APTX gene and Cerebellar Ataxia PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1554904159 in BRSK2;LOC107984298 gene and Cerebellar Ataxia PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1554943158 in DEAF1 gene and Cerebellar Ataxia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1057519389 in EBF3 gene and Cerebellar Ataxia PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1555889162 in KCNB1;LOC105372649 gene and Cerebellar Ataxia PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs531630376 in PCDH12 gene and Cerebellar Ataxia PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

rs141659620 in SPG7 gene and Cerebellar Ataxia PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs863224229 in SURF2;SURF1 gene and Cerebellar Ataxia PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs267607116 in TMEM67 gene and Cerebellar Ataxia PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs374997012 in TWNK;MRPL43 gene and Cerebellar Ataxia PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.