Vohwinkel Syndrome; Vownkl

Clinical Features

Top most frequent phenotypes and symptoms related to Vohwinkel Syndrome; Vownkl

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment
  • Alopecia
  • Hyperkeratosis
  • Cleft lip
  • Facial asymmetry
  • Ichthyosis
And another 22 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Vohwinkel Syndrome; Vownkl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJB2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GJB2
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Connexin 26 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GJB2
Specificity
100 %
Genes
100 %
Connexin Related Deafness Evaluation.

By Athena Diagnostics Inc in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
Connexin 26.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GJB2
Specificity
100 %
Genes
100 %
Connexin 26.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GJB2
Specificity
100 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Hearing Loss (Connexin-26, Connexin-30, Mitochondrial A1555G).

By Center for Human Genetics, Inc in United States.

GJB2, GJB6, MT-RNR1
Specificity
34 %
Genes
100 %
GJB2-Related Nonsyndromic Hearing Loss and Deafness.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Test for GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

GJB2
Specificity
100 %
Genes
100 %
Test for GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

GJB2
Specificity
100 %
Genes
100 %
Hearing Loss Panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SLC26A4, GJB2, GJB6
Specificity
34 %
Genes
100 %
Connexin 26.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

GJB2
Specificity
100 %
Genes
100 %
Connexin Hearing Loss Panel.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hereditary Hearing Loss.

By Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site in Canada.

GJB2
Specificity
100 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Connexin 26 and Connexin 30 (Non-Syndromic Hereditary Hearing Loss-DFNB1).

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
GJB2 Sequencing, Family-targeted (Single Exon Sequencing - Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequencing, Full Gene.

By Molecular Diagnostic Laboratory LabCorp in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 Early Childhood Nonsyndromic Hearing Loss.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

GJB2
Specificity
100 %
Genes
100 %
Hearing Loss/Deafness Multi-Gene Panels.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

GJB2, GJB6, MT-TS1
Specificity
34 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 (Connexin 26) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GJB2
Specificity
100 %
Genes
100 %
Hearing Loss Panel- Tier 1.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GJB2, GJB6, MT-TS1, MT-RNR1
Specificity
25 %
Genes
100 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
OtoSeq Hearing Loss Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
GJB2 (Connexin 26) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GJB2
Specificity
100 %
Genes
100 %
Connexin 26.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Molecular Genetics Rabin Medical Center in Israel.

GJB2
Specificity
100 %
Genes
100 %
GJB2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GJB2
Specificity
100 %
Genes
100 %
GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GJB2
Specificity
100 %
Genes
100 %
Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A.

By Human Genetics Ruhr University in Germany.

GJB2
Specificity
100 %
Genes
100 %
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Connexin 26, Full Gene Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

GJB2
Specificity
100 %
Genes
100 %
Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

GJB2, GJB6, MT-TS1, MT-RNR1
Specificity
25 %
Genes
100 %
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

GJB2
Specificity
100 %
Genes
100 %
Ichthyosis, Hystrix-like, with Deafness.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

GJB2
Specificity
100 %
Genes
100 %
Keratitis-Ichthyosis-Deafness, Autosomal Dominant.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

GJB2
Specificity
100 %
Genes
100 %
Vohwinkel Syndrome.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2 - Related DFNB1 Nonsyndromic Hearing Loss and Deafness.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

GJB2
Specificity
100 %
Genes
100 %
GJB2.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

GJB2
Specificity
100 %
Genes
100 %
OTOF,GJB3,GJB2,GJB6, NextGeneDx.Complete sequencing and detection of the mutations m.3243A>G, m.1555A>G, m.1494C>T, m.1095T>C, m.1095T>C, m.961delInsC, m.961T>C, m.7445A>G and m.7445A>C.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB2, GJB6, OTOF, GJB3
Specificity
25 %
Genes
100 %
GJB2 (Conexina 26). Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB2
Specificity
100 %
Genes
100 %
GJB2 (Conexina 26). Detection of the mutation c.35delG by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB2
Specificity
100 %
Genes
100 %
GJB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB2
Specificity
100 %
Genes
100 %
GJB2. Detection of the mutation c.35delG by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB2
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By CGC Genetics in Portugal.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By CGC Genetics in Portugal.

GJB2
Specificity
100 %
Genes
100 %
Congenital deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes).

By CGC Genetics in Portugal.

WFS1, GJB2, GJB6, POU3F4, GJB3
Specificity
20 %
Genes
100 %
Non syndromic deafness AD (NGS panel for 33 genes).

By CGC Genetics in Portugal.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Non syndromic deafness AR and XL (NGS panel for 56 genes).

By CGC Genetics in Portugal.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes).

By CGC Genetics in Portugal.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Congenital deafness (sequence analysis of GJB2 gene).

By CGC Genetics in Portugal.

GJB2
Specificity
100 %
Genes
100 %
congenital hearing defect, connexin 26 mutation analysis.

By Laboratory of Genetics HUSLAB in Finland.

GJB2
Specificity
100 %
Genes
100 %
Deafness, Nonsyndromic hearing loss and deafness.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics in Cyprus.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics in Cyprus.

GJB2
Specificity
100 %
Genes
100 %
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via GJB2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJB2
Specificity
100 %
Genes
100 %
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA4, DIABLO, MSRB3, GJB2, GJB6, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, CRYM, ILDR1, OTOF, PJVK, MARVELD2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
GJB2-related DFNB 1 nonsyndromic hearing loss and deafness.

By Institute of Human Genetics Cologne University in Germany.

GJB2
Specificity
100 %
Genes
100 %
Sensorineural Hearing Loss.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

GJB2, GJB6
Specificity
50 %
Genes
100 %
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

GJB2
Specificity
100 %
Genes
100 %
DFNA 3 Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

GJB2
Specificity
100 %
Genes
100 %
Non-syndromic Hearing Loss.

By GeneTech ATS GeneTech Private Limited in India.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Keratoderma, palmoplantar, with deafness.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
Knuckle pads and leukonychia sensorineural deafness.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Deafness 1A.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
Deafness 1B.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
Deafness, non-syndromic sensorineural AR panel.

By Centogene AG - the Rare Disease Company in Germany.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Deafness with keratopachydermia and constrictions of fingers and toes.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
Keratitis ichthyosis deafness syndrome AD.

By Centogene AG - the Rare Disease Company in Germany.

GJB2
Specificity
100 %
Genes
100 %
DFNA 3A Nonsyndromic Hearing Loss and Deafness.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, POU3F4, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL4A6, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Single gene testing GJB2.

By CeGaT GmbH in Germany.

GJB2
Specificity
100 %
Genes
100 %
Non-Syndromic Hearing Loss.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

GJB2
Specificity
100 %
Genes
100 %
Test for GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GJB2, GJB6
Specificity
50 %
Genes
100 %
GJB2/GJB6-Related DFNA3 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Sensorineural Hearing Loss.

By Asper Biogene Asper Biogene LLC in Estonia.

USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Common Hearing Loss Panel.

By Molecular Vision Laboratory in United States.

SLC26A4, GJB2, GJB6
Specificity
34 %
Genes
100 %
GJB2 single gene sequencing.

By Molecular Vision Laboratory in United States.

GJB2
Specificity
100 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Congenital deafness (GJB2, GJB6).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

GJB2, GJB6
Specificity
50 %
Genes
100 %
GJB2 gene sequence analysis.

By Molecular and Cytogenetic Diagnostic Laboratories Genetics Center in United States.

GJB2
Specificity
100 %
Genes
100 %
Deafness, neurosensory, autosomal recessive.

By Praxis fuer Humangenetik Wien in Austria.

GJB2
Specificity
100 %
Genes
100 %
GJB2.

By Division Human Genetics Medical University Innsbruck in Austria.

GJB2
Specificity
100 %
Genes
100 %
Hearing impairment (inherited causes).

By Molecular Diagnosis Centre National University Hospital in Singapore.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Deafness, neurosensory, autosomal recessive.

By MedGene in Slovakia.

GJB2
Specificity
100 %
Genes
100 %
Deafness, Hereditary: GJB2 (Connexin 26) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB2
Specificity
100 %
Genes
100 %
Deafness, Hereditary: GJB2 (Connexin 26) gene y mitochondrial DNA mutations analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB2, MT-RNR1
Specificity
50 %
Genes
100 %
Deafness, Hereditary: GJB2 and OTOF genes and mitochondrial DNA mutations analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB2, OTOF, MT-RNR1
Specificity
34 %
Genes
100 %
Deafness, Hereditary: GJB2, GJB6 and OTOF genes mutations analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB2, GJB6, OTOF
Specificity
34 %
Genes
100 %
DEAFNESS A.D..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EYA4, WFS1, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, TMC1, GSDME, GJB3, MIR96 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DEAFNESS A.D. and A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
DEAFNESS A.R. (39 genes).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hearing Loss: GJB2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GJB2
Specificity
100 %
Genes
100 %
Hearing Loss: GJB2 and GJB6 Sequencing, GJB6 Common Deletion, and Targeted Mitochondrial Analysis Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss: GJB2 & GJB6 Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss: GJB2 & GJB6 Gene Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
GJB2.

By Fulgent Genetics Fulgent Genetics in United States.

GJB2
Specificity
100 %
Genes
100 %
Ichthyosis Panel.

By Blueprint Genetics in Finland.

ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics in Finland.

BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Autosomal recessive nonsyndromic sensorineural deafness.

By Bioarray in Spain.

GJB2
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Connexin 26.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States.

GJB2
Specificity
100 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Mutation analysis of Connexin 26 gene and testing of common deletions in Connexin 30 gene.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
PALMOPLANTAR KERATODERMA WITH DEAFNESS.

By Laboratorio de Genetica Clinica SL in Spain.

GJB2
Specificity
100 %
Genes
100 %
VOHWINKEL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJB2
Specificity
100 %
Genes
100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

USH1C, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, MYO15A, OTOF, PJVK, STRC, TMPRSS3, TMC1
Specificity
8 %
Genes
100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

WFS1, GJB2, GJB6, ACTG1, COCH, COL11A2, TECTA, SIX1, GJB3, MYH9
Specificity
10 %
Genes
100 %
KERATITIS, ICHTHYOSIS AND DEAFNESS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJB2
Specificity
100 %
Genes
100 %
Autosomal Recessive Hereditary Deafness Type 1A , Sequencing GJB2 (Connexin 26) Gene.

By Reference Laboratory Genetics in Spain.

GJB2
Specificity
100 %
Genes
100 %
Autosomal Dominant Hereditary Deafness Type 3A , Deletion GJB2 Gene.

By Reference Laboratory Genetics in Spain.

GJB2
Specificity
100 %
Genes
100 %
Autosomal Recessive Hereditary Deafness Type 1A , Deletion GJB2 Gene.

By Reference Laboratory Genetics in Spain.

GJB2
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes.

By Reference Laboratory Genetics in Spain.

ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hearing Loss Panel.

By Molecular Diagnostics Children's Hospital of Wisconsin in United States.

GJB2
Specificity
100 %
Genes
100 %
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness.

By Labor Dr. Wisplinghoff in Germany.

GJB2
Specificity
100 %
Genes
100 %
GJB2 gene sequencing for deafness.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

GJB2
Specificity
100 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Bart-Pumphrey Syndrome: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Digenic GJB2/GJB3 deafness: Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2, GJB3
Specificity
50 %
Genes
100 %
Autosomal dominant deafness Type 3A: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Autosomal recessive deafness Type 1A: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Digenic GJB2/GJB6 deafness: Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2, GJB6
Specificity
50 %
Genes
100 %
Keratitis ichthyosis deafness syndrome: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Vohwinkel syndrome: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Palmoplantar keratoderma with deafness: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Hystrix-like ichthyosis with deafness: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB2
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Non-syndromic congenital deafness.

By Genomic Laboratory Semmelweis University in Hungary.

GJB2
Specificity
100 %
Genes
100 %

Alternate names

Vohwinkel Syndrome; Vownkl Is also known as deafness, congenital, with keratopachydermia and constrictions of fingers and toes, mutilating keratoderma, keratoderma hereditarium mutilans;khm;mutilating keratoderma of vohwinkel; mutilating keratoderma plus deafness; ppk mutilans and deafness; vohwinkel syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SENIOR-LOKEN SYNDROME 5; SLSN5

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