POLG2 gene related symptoms and diseases

All the information presented here about the POLG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to POLG2 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
External ophthalmoplegia	Very Common - Between 80% and 100% cases
Ophthalmoplegia	Very Common - Between 80% and 100% cases
Limb muscle weakness	Very Common - Between 80% and 100% cases
Lactic acidosis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POLG2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Increased serum lactate
Progressive muscle weakness
Exercise intolerance
Easy fatigability
Abnormality of the liver
Glucose intolerance
Progressive external ophthalmoplegia
Ketosis

And 114 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POLG2 gene

Here you will find a list of rare diseases related to the POLG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Alternate names

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Description

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Seizures
Global developmental delay
Generalized hypotonia
Failure to thrive
Muscle weakness

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

SOURCES: MESH OMIM

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1, adpeo

Description

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Intellectual disability
Seizures
Generalized hypotonia
Hearing impairment
Ataxia

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SOURCES: OMIM ORPHANET

Search interest in POLG2

Potential gene panels for POLG2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

POLG2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to POLG2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to POLG2 gene

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Alternate names

Description

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Search interest in POLG2

Potential gene panels for POLG2 gene

MitoMet®Plus aCGH Analysis Panel

POLG2 Deletion/Duplication Analysis Panel

POLG2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

POLG2 Sequence Analysis Panel

POLG2 Sequence Analysis (Prenatal Diagnosis) Panel

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

PEO Panel (MitomeNGS) Panel

Mitochondrial Depletion Panel Panel

Neuromuscular Disorders Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Progressive External Opthalmoplegia Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

POLG2. Complete sequencing Panel

MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel

Progressive external ophthalmoplegia 4, AD (sequence analysis of POLG2 gene) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Autosomal Dominant Progressive External Ophthalmoplegia via POLG2 Gene Sequencing with CNV Detection Panel

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4 Panel

Kearns Sayre syndrome Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Diseases Panel

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Progressive external ophthalmoplegia with mitochondrial deletions type 4 Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

Comprehensive mtDNA Depletion Syndromes NGS Panel Panel

Congenital and Distal Myopathies Panel Panel

Metabolic Myopathies Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Single gene testing POLG2 Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Spinocerebellar Ataxia Panel

Metabolic Myopathy and Rhabdomyolysis Panel

Myopathy-Rhabdomyolysis NGS Panel Panel

Mitochondrial DNA Depletion Syndromes NGS Panel Panel

Nuclear-Mito NGS Panel Panel

mtDNA Depletion Syndrome NGS Panel Panel

POLG2 Panel

Comprehensive Metabolism Panel Panel

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Mitochondrial DNA Depletion Syndrome Panel Panel

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Panel

OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) Panel

Spastic paraplegia panel, autosomal dominant Panel

Autosomal Dominant Progressive External Ophthalmoplegia , Sequencing POLG2 Gene Panel

Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes Panel

Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel