Gene: POLG ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
dbSNP: rs113994094
rs113994094
POLG
A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. 21515089

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study. 19538466

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994096
rs113994096
POLG
A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994098
rs113994098
POLG
T 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 21138766

2011
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
dbSNP: rs778573169
rs778573169
POLG
A 0.700 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010