BEAN1 gene related symptoms and diseases

All the information presented here about the BEAN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BEAN1 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Babinski sign Very Common - Between 80% and 100% cases
Hyperactive deep tendon reflexes Very Common - Between 80% and 100% cases
Brisk reflexes Very Common - Between 80% and 100% cases
Impaired vibratory sensation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BEAN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Truncal ataxia
  • Limb ataxia
  • Bilateral sensorineural hearing impairment
  • Sensory neuropathy
  • Gait ataxia
  • Hyporeflexia
  • Hearing impairment
  • Cerebellar atrophy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BEAN1 gene

Here you will find a list of rare diseases related to the BEAN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 31


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31, spinocerebellar ataxia, 16q22-linked

Description

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 31

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


More info about SPINOCEREBELLAR ATAXIA TYPE 31

SOURCES: MESH OMIM ORPHANET


Potential gene panels for BEAN1 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

Spinocerebellar ataxia type 31 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BEAN1 gene.

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

BEAN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BEAN1 gene.

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

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

Spinocerebellar ataxia panel Panel

Canada.

By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56

More info about this panel


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