C12orf65 gene related symptoms and diseases

All the information presented here about the C12orf65 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,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 C12orf65 gene

Symptoms // Phenotype	% Cases
Distal sensory impairment	Very Common - Between 80% and 100% cases
Optic atrophy	Very Common - Between 80% and 100% cases
Nystagmus	Very Common - Between 80% and 100% cases
Strabismus	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with C12orf65 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Ophthalmoplegia
Skeletal muscle atrophy
Not very common - Between 30% and 50% cases
Axonal regeneration
Decreased sensory nerve conduction velocity
Progressive distal muscle weakness
Poor fine motor coordination
Intellectual disability
Tibialis muscle weakness

And 49 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to C12orf65 gene

Here you will find a list of rare diseases related to the C12orf65. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Description

Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Intellectual disability
Global developmental delay
Nystagmus
Strabismus
Muscle weakness

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

SOURCES: ORPHANET OMIM

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Alternate names

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect, severe c12orf65-related coxpd, coxpd7

Description

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Global developmental delay
Generalized hypotonia
Ataxia
Nystagmus
Failure to thrive

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

SOURCES: OMIM ORPHANET

Search interest in C12orf65

Potential gene panels for C12orf65 gene

C12orf65 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the C12orf65 gene.

C12orf65 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to C12orf65 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 C12orf65 gene

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Alternate names

Description

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Search interest in C12orf65

Potential gene panels for C12orf65 gene

C12orf65 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

C12orf65 Deletion/Duplication Analysis Panel

C12orf65 Sequence Analysis Panel

C12orf65 Sequence Analysis (Prenatal Diagnosis) Panel

MitoMet®Plus aCGH Analysis Panel

Optic Atrophy and Early Glaucoma Panel Panel

Hereditary Spastic Paraplegia Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Combined oxidative phosphorylation deficiency 7 (sequence analysis of C12ORF65 gene) Panel

Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel

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

Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

C12orf65-Associated Optic Atrophy via C12orf65 Gene Sequencing with CNV Detection Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Optic Atrophy Sequencing Panel with CNV Detection Panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

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

Atrial fibrillation Deletion / Duplication test Panel

Atrioventricular block Comprehensive test Panel

Atrioventricular block NGS test Panel

Atrial fibrillation Comprehensive test Panel

Atrial fibrillation NGS test Panel

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

Charcot-Marie-Tooth disease NGS panel Panel

Charcot-Marie-Tooth disease Comprehensive panel Panel

Mental retardation - different panels Panel

Complex IV Defect Panel

Neuropathy Panel

C12ORF65 Panel

Kearns Sayre syndrome Panel

(Mitochondrial) Optic Atrophy Panel

Leigh Syndrome Panel

Mitochondrial Ataxia Panel

Combined Respiratory Chain Defects Panel

Eye Diseases - panels Panel

Neurogenetic Disorders - panels Panel

Ataxia Panel

Mitochondrial Diseases Panel

Hereditary Optic Atrophy Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Combined oxidative phosphorylation deficiency 7 Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Optic Atrophy Panel Panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Single gene testing C12orf65 Panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Charcot-Marie-Tooth Disease Panel

Retinal Dystrophy Panel Panel

MVL Vision Panel Panel

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

SPASTIC PARAPLEGIA A.R Panel

Optic atrophy Panel

Epilepsy NGS Panel Panel