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