GNAL gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GNAL gene

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

Other less frequent symptoms and clinical features

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

  • Torsion dystonia
  • Axial dystonia
  • Craniofacial dystonia
  • Lingual dystonia
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GNAL gene

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


AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE


Alternate names

AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE Is also known as dyt25, dystonia 25

Description

Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).

Most common symptoms of AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE

  • Dystonia
  • Torticollis
  • Limb dystonia
  • Focal dystonia
  • Laryngeal dystonia


More info about AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE

SOURCES: OMIM ORPHANET


Potential gene panels for GNAL 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

GNAL Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GNAL gene.

More info about this panel

Torsion dystonia 25 (DYT25, sequence analysis of GNAL gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAL 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 GNAL Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GNAL 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 25 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GNAL 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

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

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, FOCAL, AUTOSOMIC DOMINANT (DYT25) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GNAL gene.

More info about this panel

Dystonia Type 25 , Sequencing GNAL Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GNAL gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like INS-IGF2 GREB1L

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more