CDH23 gene related symptoms and diseases
All the information presented here about the CDH23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDH23 gene
Symptoms // Phenotype | % Cases |
---|---|
Headache | Common - Between 50% and 80% cases |
Fatigue | Common - Between 50% and 80% cases |
Pituitary adenoma | Uncommon - Between 30% and 50% cases |
Hypertension | Uncommon - Between 30% and 50% cases |
Osteoporosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CDH23 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Depressivity
- Progressive visual loss
- Hypotension
- Bruising susceptibility
- Growth hormone excess
- Neoplasm
- Osteopenia
- Blindness
And 218 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDH23 gene
Here you will find a list of rare diseases related to the CDH23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROLACTINOMA
Alternate names
PROLACTINOMA Is also known as pituitary lactotrophic adenoma, prloma, prl-secreting pituitary adenoma, prolactin-secreting pituitary adenoma, lactotroph adenoma, prolactinoma, familial
Description
Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.
Most common symptoms of PROLACTINOMA
- Seizures
- Neoplasm
- Ptosis
- Fatigue
- Blindness
More info about PROLACTINOMA
ARTERIAL TORTUOSITY SYNDROME; ATS
Alternate names
ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity
Most common symptoms of ARTERIAL TORTUOSITY SYNDROME; ATS
- Intellectual disability
- Seizures
- Generalized hypotonia
- Scoliosis
- Hypertelorism
More info about ARTERIAL TORTUOSITY SYNDROME; ATS
SOURCES: OMIM
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
USHER SYNDROME, TYPE ID; USH1D
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 {276900}.
Most common symptoms of USHER SYNDROME, TYPE ID; USH1D
- Hearing impairment
- Sensorineural hearing impairment
- Rod-cone dystrophy
- Retinopathy
- Pigmentary retinopathy
More info about USHER SYNDROME, TYPE ID; USH1D
SOURCES: OMIM
CUSHING DISEASE
Alternate names
CUSHING DISEASE Is also known as corticotroph pituitary adenoma, pituitary-dependent cushing syndrome, pituitary corticotroph micro-adenoma
Description
Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.
Most common symptoms of CUSHING DISEASE
- Failure to thrive
- Cataract
- Visual impairment
- Hypertension
- Fatigue
More info about CUSHING DISEASE
SOURCES: ORPHANET
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
Alternate names
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia, cushing syndrome, adrenal, due to aimah, corticotropin-independent macronodular adrenal hyperplasia, adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
Description
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.
Most common symptoms of ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
- Neoplasm
- Failure to thrive
- Muscle weakness
- Cataract
- Visual impairment
More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
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
FAMILIAL ISOLATED PITUITARY ADENOMA
Alternate names
FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated, pagh1, somatotrophinoma, familial, ifs, isolated familial somatotropinoma, fipa, acromegaly due to pituitary adenoma 1, fis
Description
Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
Most common symptoms of FAMILIAL ISOLATED PITUITARY ADENOMA
- Neoplasm
- Hypertension
- Fatigue
- Cardiomyopathy
- Headache
More info about FAMILIAL ISOLATED PITUITARY ADENOMA
TSH-SECRETING PITUITARY ADENOMA
Alternate names
TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma, pituitary thyrotrophic adenoma, thyroid stimulating hormone-secreting pituitary adenoma, tsh-oma
Description
A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.
Most common symptoms of TSH-SECRETING PITUITARY ADENOMA
- Seizures
- Ptosis
- Hypertension
- Tremor
- Fatigue
More info about TSH-SECRETING PITUITARY ADENOMA
SOURCES: ORPHANET
PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5
Description
Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors.For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (OMIM ).
Most common symptoms of PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5
- Neoplasm
- Headache
- Pituitary adenoma
More info about PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5
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
Search interest in CDH23
Potential gene panels for CDH23 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelCDH23 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDH23 gene.
More info about this panelCDH23 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDH23 gene.
More info about this panelCDH23 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDH23 gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelHearing 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 panelCiliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelCDH23 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CDH23 gene.
More info about this panelOtoSeq Hearing Loss Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN
More info about this panelUsher Syndrome Panel by next-generation sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Usher Syndrome Panel by next-generation sequencing that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN ADGRV1 MYO7A
More info about this panelOtoSeq Hearing Loss Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G TMC1
More info about this panelUsher Syndrome Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Usher Syndrome Deletion/Duplication Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 USH1G ADGRV1 MYO7A
More info about this panelCDH23 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CDH23 gene.
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 panelExpanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panelCDH23. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDH23 gene.
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 1D/F (sequence analysis of CDH23 gene) Panel
By CGC Genetics
This panel specifically test the CDH23 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 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 1 and Deafness, Autosomal Recessive 12 (DFNB12) via CDH23 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CDH23 gene.
More info about this panelUsher 1 Panel Panel
By FirmaLab Usher 1 Panel that also includes the following genes: USH1C CDH23 PCDH15 MYO7A
More info about this panelDFNB12 Nonsyndromic Hearing Loss and Deafness Panel
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 panelUsher Syndrome Type 1D Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CDH23 gene.
More info about this panelUsher syndrome type 1D/F Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDH23 gene.
More info about this panelDeafness, non-syndromic sensorineural AR panel Panel
By Centogene AG - the Rare Disease Company Deafness, non-syndromic sensorineural AR panel that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C ESPN CDH23 PCDH15 STRC WHRN
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 panelCDH23 single gene sequencing Panel
By Molecular Vision Laboratory
This panel specifically test the CDH23 gene.
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 panelUsher syndrome Panel
By VECMD VECMD Usher syndrome that also includes the following genes: USH1C USH2A CDH23 USH1G MYO7A
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
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 panelUSHER SYNDROME and NON-SYNDROMIC DEAFNESS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases USHER SYNDROME and NON-SYNDROMIC DEAFNESS that also includes the following genes: TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN TMC1 ADGRV1
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 panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
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 panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
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 panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelRetinitis Pigmentosa NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelHearing Loss NGS Panel Panel
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 panelUsher Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Usher Syndrome NGS Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 PDZD7
More info about this panelCDH23 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDH23 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, type 1D Panel
By Bioarray
This panel specifically test the CDH23 gene.
More info about this panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panelDEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) that also includes the following genes: TMPRSS3 USH1C CDH23 PCDH15 STRC TMC1 OTOGL PJVK GJB2 GJB6
More info about this panelUSHER SYNDROME TYPE 1 Panel
By Laboratorio de Genetica Clinica SL USHER SYNDROME TYPE 1 that also includes the following genes: USH1C CDH23 PCDH15 USH1G MYO7A
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 panelUsher Syndrome Type 1D , Sequencing CDH23 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDH23 gene.
More info about this panelUsher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN TMC1 ADGRV1
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
More info about this panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
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