Primary ovarian insufficiency
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Later onset POICreated: 9 Jun 2017, 3:33 p.m.
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as POI can be a feature of POLG disordersCreated: 30 May 2017, 12:27 p.m.
POI can be a feature of POLG-related disordersCreated: 19 May 2017, 1:53 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia, autosomal dominant 1 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Progressive external ophthalmoplegia, autosomal dominant 1 157640
- Progressive external ophthalmoplegia, autosomal recessive 1 258450
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- DDG2P
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- White matter disorders and cerebral calcification - childhood onset
- Undiagnosed metabolic disorders
- POLG-related disorder
- Intellectual disability
- 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
- Early onset or syndromic epilepsy
- Neurodegenerative disorders, adult onset
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Acute rhabdomyolysis
- Mitochondrial liver disease
- Mitochondrial disorders
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Arianna Tucci (Genomics England Curator)POLG was created by arianna
Added New Source
Arianna Tucci (Genomics England Curator)POLG was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature