EPS8L2 gene related symptoms and diseases

All the information presented here about the EPS8L2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EPS8L2 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Profound hearing impairment Uncommon - Between 30% and 50% cases

Rare diseases associated to EPS8L2 gene

Here you will find a list of rare diseases related to the EPS8L2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106


Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106

  • Hearing impairment
  • Profound hearing impairment


More info about DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106

SOURCES: OMIM

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB


Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb


More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

SOURCES: ORPHANET


Potential gene panels for EPS8L2 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

EPS8L2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPS8L2 gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Non-Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN

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 ATP2B3 TBL1XR1 MT-TQ CFI ACP2 TUBA4A FIBP

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