×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26735972 2016
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
24272679 2014
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991 2013
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
18546343 2008
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15824347 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
22006280 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
19766516 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830 2014
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
19501198 2009
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
22931735 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
27987238 2017
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
15917273 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
28771251 2018
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
21647632 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
16368709 2006
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
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
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21993618 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
21235791 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686 2001
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
18500570 2008
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
21515089 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
20138553 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
20691285 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG mutation presenting with late-onset jerky torticollis.
23212759 2013