CACNA1G gene related symptoms and diseases

All the information presented here about the CACNA1G 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 CACNA1G gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CACNA1G gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cerebellar atrophy
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Abnormal cerebellum morphology
  • Horizontal nystagmus
  • Diplopia
  • Spastic gait
  • Involuntary movements
  • Urinary incontinence

And 66 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CACNA1G gene

Here you will find a list of rare diseases related to the CACNA1G. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND


Most common symptoms of SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND

SOURCES: OMIM

SPINOCEREBELLAR ATAXIA TYPE 42


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 42 Is also known as sca42

Description

Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 42

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


More info about SPINOCEREBELLAR ATAXIA TYPE 42

SOURCES: OMIM ORPHANET


Potential gene panels for CACNA1G gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR

More info about this panel

CACNA1G Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CACNA1G gene.

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

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 MRPS22 ZBTB20

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more