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.