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

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

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