ATP2B2 gene related symptoms and diseases
All the information presented here about the ATP2B2 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 ATP2B2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Abnormality of the eye | Uncommon - Between 30% and 50% cases |
| Prelingual sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Rare diseases associated to ATP2B2 gene
Here you will find a list of rare diseases related to the ATP2B2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
- Hearing impairment
- Sensorineural hearing impairment
- Abnormality of the eye
- Prelingual sensorineural hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
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
Search interest in ATP2B2
Potential gene panels for ATP2B2 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 United States.
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 United States.
DFNB12 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics DFNB12 Nonsyndromic Hearing Loss and Deafness that also includes the following genes: CDH23 ATP2B2
More info about this panel Germany.
Sensorineural Hearing Loss Panel
Estonia.
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panel Estonia.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
ATP2B2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP2B2 gene.
More info about this panel United States.
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