ANO3 gene related symptoms and diseases

All the information presented here about the ANO3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANO3 gene

Symptoms // Phenotype % Cases
Tremor Very Common - Between 80% and 100% cases
Dystonia Very Common - Between 80% and 100% cases
Myoclonus Very Common - Between 80% and 100% cases
Torticollis Very Common - Between 80% and 100% cases
Limb dystonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANO3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hand tremor
  • Blepharospasm
  • Head tremor
  • Focal dystonia
  • Abnormality of the larynx
  • Oromandibular dystonia
  • Upper limb postural tremor
  • Vocal tremor
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Rare diseases associated to ANO3 gene

Here you will find a list of rare diseases related to the ANO3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT


Alternate names

CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT Is also known as dystonia 24, dyt24

Description

Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.

Most common symptoms of CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT

  • Tremor
  • Dystonia
  • Myoclonus
  • Torticollis
  • Limb dystonia


More info about CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT

SOURCES: OMIM ORPHANET


Potential gene panels for ANO3 gene

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

ANO3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ANO3 gene.

More info about this panel

Torsion dystonia 24 (DYT24, sequence analysis of ANO3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANO3 gene.

More info about this panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

Dystonia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

Dystonia via ANO3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANO3 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

Dystonia 24 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANO3 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

Primary Torsion Dystonia Panel Panel

Germany.

By CeGaT GmbH Primary Torsion Dystonia Panel that also includes the following genes: ANO3 CIZ1 TUBB4A THAP1 COL6A3 TOR1A GNAL HPCA ATM

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Single gene testing ANO3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ANO3 gene.

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel

Invitae Dystonia Comprehensive Panel Panel

United States.

By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

ANO3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANO3 gene.

More info about this panel

Dystonia Panel Panel

Finland.

By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5

More info about this panel

DYSTONIAS (DYT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A

More info about this panel

DYSTONIA CRANIO-CERVICAL Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ANO3 gene.

More info about this panel

Dystonia Type 24, Sequencing ANO3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ANO3 gene.

More info about this panel


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