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

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