S1PR2 gene related symptoms and diseases
All the information presented here about the S1PR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to S1PR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Syndactyly | Uncommon - Between 30% and 50% cases |
| Camptodactyly | Uncommon - Between 30% and 50% cases |
| Abnormality of the foot | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with S1PR2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congenital sensorineural hearing impairment
- Long fingers
- Split foot
- Abnormality of the lower limb
- Fibular aplasia
- Joint contracture of the 5th finger
- Clubbing of toes
Rare diseases associated to S1PR2 gene
Here you will find a list of rare diseases related to the S1PR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
- Hearing impairment
- Sensorineural hearing impairment
- Syndactyly
- Camptodactyly
- Abnormality of the foot
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 DFNBSOURCES: ORPHANET
Search interest in S1PR2
Potential gene panels for S1PR2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
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 panelOtoSCOPE Panel
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 panelOtoGenome Test for Hearing Loss (110 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panelAudiome (hearing loss panel) Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panelS1PR2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the S1PR2 gene.
More info about this panelComprehensive Hearing Loss and Deafness Panel Panel
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 panelNon-Syndromic Hearing Loss Panel Panel
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 panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelDEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panelCEN4GEN Gastric cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Gastric cancer: Extended gene sequencing Panel that also includes the following genes: BRCA2 SSTR1 STK11 TP53 TRIO TRRAP WNK2 CCNE1 FBXW7 SPEG
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