Gastrointestinal neuromuscular disorders
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: > 3 cases reported in OMIM for different variants under Mitochondrial DNA depletion syndrome 4B (MNGIE type). Confirmed DD gene for MITOCHONDRIAL DNA DEPLETION SYNDROME 4A. Green gene on the Mitochondrial panel Version 1.14.Created: 19 Oct 2016, 9:20 a.m.
Neil shah (GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Primary ovarian insufficiency
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Arthrogryposis
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- POLG-related disorder
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
Added New Source
Sarah Leigh (Genomics England Curator)POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)POLG was created by sleigh