Optic neuropathy
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
1 review
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London North GLH
- Phenotypes
-
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Bilateral congenital or childhood onset cataracts
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Neurodegenerative disorders, adult onset
- Mitochondrial DNA maintenance disorder
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- White matter disorders and cerebral calcification - childhood onset
- Undiagnosed metabolic disorders
- POLG-related disorder
- Hyperammonaemia
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Optic neuropathy
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Acute rhabdomyolysis
- Mitochondrial liver disease
- Mitochondrial disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: POLG were changed from to PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: POLG was added gene: POLG was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: POLG was set to