Ataxia and cerebellar anomalies - childhood onset
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia, adult onset
- Paediatric pseudo-obstruction syndrome
- Bilateral congenital or childhood onset cataracts
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Mitochondrial DNA maintenance disorder
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Cholestasis
- Undiagnosed metabolic disorders
- POLG-related disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hyperammonaemia
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Neurodegenerative disorders, adult onset
- Optic neuropathy
- Fetal anomalies
- Neonatal cholestasis
- Acute rhabdomyolysis
- Mitochondrial liver disease
- Mitochondrial disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: POLG was added gene: POLG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)