COASY gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to COASY gene

Symptoms // Phenotype % Cases
Spasticity Very Common - Between 80% and 100% cases
Toe walking Very Common - Between 80% and 100% cases
Bradykinesia Very Common - Between 80% and 100% cases
Spastic tetraplegia Very Common - Between 80% and 100% cases
Tetraparesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COASY gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Paraparesis
  • Spastic paraparesis
  • Obsessive-compulsive behavior
  • Motor axonal neuropathy
  • Tetraplegia
  • Tics
  • Oromandibular dystonia
  • Abnormal globus pallidus morphology

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COASY gene

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


COASY PROTEIN-ASSOCIATED NEURODEGENERATION


Alternate names

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan, neurodegeneration with brain iron accumulation due to coasy mutation, nbia6

Description

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

Most common symptoms of COASY PROTEIN-ASSOCIATED NEURODEGENERATION

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

SOURCES: ORPHANET OMIM


Potential gene panels for COASY gene

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2

More info about this panel

NBIA Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago NBIA Deletion/Duplication Analysis that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

NBIA Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago NBIA Sequencing Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL

More info about this panel

COASY Protein-Associated Neurodegeneration via COASY Gene  Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COASY gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Neurodegeneration with brain iron accumulation type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COASY gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel

Germany.

By CeGaT GmbH Neurodegeneration with Brain Iron Accumulation (NBIA) Panel that also includes the following genes: SCP2 REPS1 PANK2 FA2H CP C19orf12 DCAF17 SLC25A42 WDR45 COASY

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Single gene testing COASY Panel

Germany.

By CeGaT GmbH

This panel specifically test the COASY gene.

More info about this panel

Neurodegeneration with Brain Iron Accumulation Panel

Estonia.

By Asper Biogene Asper Biogene LLC Neurodegeneration with Brain Iron Accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45

More info about this panel

Invitae Neurodegeneration with Brain Iron Accumulation Panel Panel

United States.

By Invitae Invitae Neurodegeneration with Brain Iron Accumulation Panel that also includes the following genes: SQSTM1 PANK2 CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL FUCA1

More info about this panel

NGS panel - Neurodegeneration with brain iron accumulation Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Neurodegeneration with brain iron accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

COASY Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COASY gene.

More info about this panel

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel

Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6

More info about this panel


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