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