Cholestasis Victorian Clinical Genetics Services
Gene: POLG

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels

0 reviews

Details

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

174763

Clinvar variants

Variants in POLG

Penetrance

None

Panels with this gene

Cholestasis
Primary ovarian insufficiency
Gastrointestinal neuromuscular disorders
Inherited white matter disorders
DDG2P
Fetal anomalies
Neurodegenerative disorders, adult onset
Early onset or syndromic epilepsy
Likely inborn error of metabolism
Dystonia, chorea or related movement disorder, childhood onset
Hereditary neuropathy
Bilateral congenital or childhood onset cataracts
Rhabdomyolysis and metabolic muscle disorders
Mitochondrial DNA maintenance disorder
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Arthrogryposis
Mitochondrial disorders
Paediatric pseudo-obstruction syndrome
Ataxia and cerebellar anomalies - childhood onset
Undiagnosed metabolic disorders
POLG-related disorder
Hyperammonaemia
Hereditary ataxia
Intellectual disability
Possible mitochondrial disorder, nuclear genes
Optic neuropathy
Acute rhabdomyolysis
Neonatal cholestasis
Hereditary ataxia, adult onset
Mitochondrial liver disease
White matter disorders and cerebral calcification - childhood onset
Hereditary neuropathy or pain disorder

History Filter Activity

12 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services