CIB2 gene related symptoms and diseases
All the information presented here about the CIB2 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 CIB2 gene
Symptoms // Phenotype | % Cases |
---|---|
Hearing impairment | Common - Between 50% and 80% cases |
Vestibular dysfunction | Common - Between 50% and 80% cases |
Sensorineural hearing impairment | Common - Between 50% and 80% cases |
Motor delay | Uncommon - Between 30% and 50% cases |
Rod-cone dystrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CIB2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Progressive hearing impairment
Rarely - Less than 30% cases
- Iris hypopigmentation
- Abnormal electroretinogram
- Aplasia/Hypoplasia of the cerebellum
- Decreased fertility
- Scotoma
- High hypermetropia
- Severe hearing impairment
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CIB2 gene
Here you will find a list of rare diseases related to the CIB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Description
DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
- Hearing impairment
- Sensorineural hearing impairment
- Vestibular dysfunction
- Profound sensorineural hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
USHER SYNDROME, TYPE IJ; USH1J
Description
Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (OMIM ).
Most common symptoms of USHER SYNDROME, TYPE IJ; USH1J
- Hearing impairment
- Sensorineural hearing impairment
- Motor delay
- Rod-cone dystrophy
- Progressive hearing impairment
More info about USHER SYNDROME, TYPE IJ; USH1J
SOURCES: OMIM
USHER SYNDROME TYPE 1
Alternate names
USHER SYNDROME TYPE 1 Is also known as ush1, retinitis pigmentosa and congenital deafness, us1
Description
Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.
Most common symptoms of USHER SYNDROME TYPE 1
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
More info about USHER SYNDROME TYPE 1
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 CIB2
Potential gene panels for CIB2 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 panelNGS Hearing Loss Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
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 panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
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 panelUsher syndrome type IJ (sequence analysis of CIB2 gene) Panel
By CGC Genetics
This panel specifically test the CIB2 gene.
More info about this panelDeafness, autosomal recessive 48 (sequence analysis of CIB2 gene) Panel
By CGC Genetics
This panel specifically test the CIB2 gene.
More info about this panelSyndromic deafness (NGS panel for 62 genes) Panel
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelNon syndromic deafness AR and XL (NGS panel for 56 genes) Panel
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelNon syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panelUsher syndrome (NGS panel for 12 genes) Panel
By CGC Genetics Usher syndrome (NGS panel for 12 genes) that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN ADGRV1 CIB2 PDZD7
More info about this panelUsher Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Usher Syndrome Sequencing Panel with CNV Detection that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN ADGRV1 CIB2 PDZD7
More info about this panelNonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8
More info about this panelUsher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CIB2 gene.
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelUsher syndrome type IJ Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CIB2 gene.
More info about this panelDeafness type 48 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CIB2 gene.
More info about this panelHearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panelSyndromic Hearing Loss Panel Panel
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelUsher Syndrome Panel Panel
By CeGaT GmbH Usher Syndrome Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CIB2
More info about this panelUsher Syndrome Panel
By Asper Biogene Asper Biogene LLC Usher Syndrome that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 GIPC3
More info about this panelSensorineural Hearing Loss Panel
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 panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelUSHER syndrome panel Panel
By Molecular Vision Laboratory USHER syndrome panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CEP250
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelDEAFNESS A.D. and A.R. Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panelDEAFNESS A.R. (39 genes) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.R. (39 genes) that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelUsher Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Usher Syndrome: Sequencing Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CIB2
More info about this panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelHearing Loss: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panelCIB2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CIB2 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 panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelUsher Syndrome Panel Panel
By Blueprint Genetics Usher Syndrome Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CIB2
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelUSHER SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL USHER SYNDROME NGS PANEL that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN ADGRV1 CIB2 PDZD7
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 panelAutosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes Panel
By Reference Laboratory Genetics Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
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