TWNK gene related symptoms and diseases

All the information presented here about the TWNK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, 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 TWNK gene

Symptoms // Phenotype	% Cases
Hearing impairment	Common - Between 50% and 80% cases
Ataxia	Common - Between 50% and 80% cases
Peripheral neuropathy	Common - Between 50% and 80% cases
Ophthalmoplegia	Common - Between 50% and 80% cases
Peripheral axonal neuropathy	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Sensory axonal neuropathy
Hyporeflexia
Amenorrhea
Sensory neuropathy
Cerebellar atrophy
Sensorineural hearing impairment
Seizures
Not very common - Between 30% and 50% cases
Migraine

And 198 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TWNK gene

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

INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Alternate names

INFANTILE ONSET SPINOCEREBELLAR ATAXIA Is also known as ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome, spinocerebellar ataxia, infantile, with sensory neuropathy, iosca, spinocerebellar ataxia 8, formerly, ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis, ohaha syndrome, sca8, formerly,

Description

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

Most common symptoms of INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Intellectual disability
Seizures
Generalized hypotonia
Hearing impairment
Ataxia

More info about INFANTILE ONSET SPINOCEREBELLAR ATAXIA

SOURCES: ORPHANET MESH OMIM

PERRAULT SYNDROME

Alternate names

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, xx type, with deafness, xx gonodal dysgenesis-deafness syndrome

Description

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Most common symptoms of PERRAULT SYNDROME

Intellectual disability
Short stature
Hearing impairment
Scoliosis
Ataxia

More info about PERRAULT SYNDROME

SOURCES: ORPHANET OMIM

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Alternate names

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Description

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

SOURCES: ORPHANET

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Alternate names

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Seizures
Global developmental delay
Short stature
Hearing impairment
Ataxia

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

SOURCES: MESH OMIM

PERRAULT SYNDROME 5; PRLTS5

Most common symptoms of PERRAULT SYNDROME 5; PRLTS5

Seizures
Hearing impairment
Ataxia
Nystagmus
Sensorineural hearing impairment

More info about PERRAULT SYNDROME 5; PRLTS5

SOURCES: 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

MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM

Alternate names

MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM Is also known as mtdna depletion syndrome, hepatocerebrorenal form

Description

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeﬂexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM

SOURCES: ORPHANET

Search interest in TWNK

Potential gene panels for TWNK gene

C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TWNK gene.

TWNK gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TWNK gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to TWNK gene

INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Alternate names

Description

Most common symptoms of INFANTILE ONSET SPINOCEREBELLAR ATAXIA

PERRAULT SYNDROME

Alternate names

Description

Most common symptoms of PERRAULT SYNDROME

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Alternate names

Description

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Alternate names

Description

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

PERRAULT SYNDROME 5; PRLTS5

Most common symptoms of PERRAULT SYNDROME 5; PRLTS5

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM

Alternate names

Description

Search interest in TWNK

Potential gene panels for TWNK gene

C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis Panel

C10orf2 (TWINKLE) Deletion/Duplication Analysis Panel

C10orf2 (TWINKLE) Sequence Analysis Panel

C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis) Panel

MitoMet®Plus aCGH Analysis Panel

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

PEO Panel (MitomeNGS) Panel

Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) Panel

Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE) Panel

TWINKLE (PEO1/C10orf2) DNA Sequencing Test (Related to mtDNA depletion) Panel

Mitochondrial Depletion Panel Panel

Neuromuscular Disorders Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

OtoSCOPE Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Progressive External Opthalmoplegia Panel

Ataxia Exome Panel Panel

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

C10orf2. Complete sequencing Panel

Neuropathy with sensory ataxic, dysarthria and progressive external opthalmoplegia (sequence analysis of C10ORF2 gene) Panel

Spinocerebellar ataxia infantile-onset (sequence analysis of C10ORF2 gene) Panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene) Panel

C10orf2 (Twinkle) Sequence Analysis Panel

infantile onset spinocellular ataxia Panel

Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection Panel

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

Leukodystrophy and Leukoencephalopathy 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

Mitochondrial Depletion Panel

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 Panel

TWNK/C10orf2-Related Ataxia Neuropathy Spectrum Disorders Panel

TWNK/C10orf2-Related Mitochondrial Disorder Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Mitochondrial Diseases Panel

Mitochondrial Myopathy Panel

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel

Mitochondrial Encephalopathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel