Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:32 p.m. | Last Modified: 28 Nov 2019, 5:32 p.m.
Panel Version: 1.183
Chiara Marini Bettolo (NUTH)
Progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Louise Daugherty (Genomics England Curator)
Comment on list classification: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019Created: 14 May 2019, 11:27 a.m.
Ana Topf (John Walton Muscular Dystrophy Research Centre)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Ataxia and cerebellar anomalies - narrow panel
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- POLG-related disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial liver disease, including transient infantile liver failure
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Optic neuropathy
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: polg has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: polg has been classified as Amber List (Moderate Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POLG.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to POLG.
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG Publications for gene POLG were changed from to 15122711
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: POLG was added gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: POLG was set to