Erythrokeratodermia Variabilis Et Progressiva 1; Ekvp1

Description

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Erythrokeratodermia Variabilis Et Progressiva 1; Ekvp1

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract
  • Brachydactyly
  • Abnormality of cardiovascular system morphology
  • Alopecia
  • Erythema
  • Glaucoma
And another 30 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Erythrokeratodermia Variabilis Et Progressiva 1; Ekvp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KDSR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KDSR
Specificity
100 %
Genes
25 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
58 %
Genes
100 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
58 %
Genes
100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
58 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
GJB4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJB4
Specificity
100 %
Genes
25 %
Connexin Gene Testing.

By GeneDx in United States.

GJB3, GJB4
Specificity
100 %
Genes
50 %
Erythrokeratodermia variabilis, Mendes da Costa type (sequence analysis of GJB4 gene).

By CGC Genetics in Portugal.

GJB4
Specificity
100 %
Genes
25 %
Erythrokeratodermia variabilis et progressive.

By Centogene AG - the Rare Disease Company in Germany.

GJB4
Specificity
100 %
Genes
25 %
Erythrokeratodermia variabilis et progressiva.

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

GJB3, GJB4
Specificity
100 %
Genes
50 %
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
4 %
Genes
50 %
GJB4.

By Division Human Genetics Medical University Innsbruck in Austria.

GJB4
Specificity
100 %
Genes
25 %
GJB4.

By Fulgent Genetics Fulgent Genetics in United States.

GJB4
Specificity
100 %
Genes
25 %
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
10 %
Genes
75 %
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
25 %
Erythrokeratodermia variabilis with erythema gyratum repens.

By Bioarray in Spain.

GJB4
Specificity
100 %
Genes
25 %
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
3 %
Genes
75 %
ERYTHROKERATODERMIA VARIABILIS, MENDES DA COSTA TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

GJB3, GJB4
Specificity
100 %
Genes
50 %
Erythrokeratodermia Variabilis (Type Mendes da Costa), Sequencing GJB4 Gene.

By Reference Laboratory Genetics in Spain.

GJB4
Specificity
100 %
Genes
25 %
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
7 %
Genes
50 %
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes.

By Reference Laboratory Genetics in Spain.

GJB3, GJA1, LOR, GJB4
Specificity
75 %
Genes
75 %
Oculodentodigital Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

GJA1
Specificity
100 %
Genes
25 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
25 %
Heterotaxy V2 Panel.

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

NODAL, FOXH1, DNAH11, DNAH5, NKX2-5, GJA1, ZIC3, GDF1, SHROOM3, LEFTY2, CRELD1, ACVR2B, GATA6, CFC1, NAT10, CFAP53, BCL9L
Specificity
6 %
Genes
25 %
GJA1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GJA1
Specificity
100 %
Genes
25 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
25 %
GJA1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJA1
Specificity
100 %
Genes
25 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
GJA1. Complete sequencing.

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

GJA1
Specificity
100 %
Genes
25 %
Syndactyly type 3 (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
25 %
Hypoplastic left heart syndrome (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
25 %
Atrioventricular septal defect 3 (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
25 %
Craniometaphyseal dysplasia (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
25 %
Oculodentodigital dysplasia (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
25 %
OCULODENTODIGITAL DYSPLASIA.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

GJA1
Specificity
100 %
Genes
25 %
OculoDentoDigital Dysplasia (ODDD) via the GJA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

GJA1
Specificity
100 %
Genes
25 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4, GJA1
Specificity
9 %
Genes
25 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
25 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
25 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
25 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
25 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
25 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
25 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
25 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
25 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ELN, JAG1, RAF1, TAZ, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MYH7, LDB3, MYBPC3, NODAL, FOXH1, MYH11 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
Heterotaxy panel.

By Centogene AG - the Rare Disease Company in Germany.

NODAL, FOXH1, NKX2-5, GJA1, ZIC3, GDF1, LEFTY2, CRELD1, ACVR2B, CFC1
Specificity
10 %
Genes
25 %
Oculodentodigital dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

GJA1
Specificity
100 %
Genes
25 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
25 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Single gene testing GJA1.

By CeGaT GmbH in Germany.

GJA1
Specificity
100 %
Genes
25 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
25 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Cardio-channelopathy-gene-panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
25 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
25 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
25 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
25 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
25 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
25 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
25 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
25 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
25 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
25 %
Primary lymphedema and Hydrops fetalis.

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

RAF1, GJC2, HRAS, IKBKG, KRAS, NRAS, PTPN11, SOS1, GATA2, HGF, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Oculodentodigital dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
25 %
Syndactyly, type III.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
25 %
Hypoplastic left heart syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
25 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
25 %
Hallermann-Streiff syndrome.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
25 %
Hypoplastic left heart syndrome 1.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
25 %
Oculodentodigital dysplasia.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
25 %
Syndactyly, type III.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
25 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
25 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
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
2 %
Genes
50 %
GJA1.

By Fulgent Genetics Fulgent Genetics in United States.

GJA1
Specificity
100 %
Genes
25 %
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
2 %
Genes
50 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
25 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
25 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
25 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
25 %
Hypoplastic left heart syndrome.

By Bioarray in Spain.

GJA1
Specificity
100 %
Genes
25 %
HYPOPLASTIC LEFT HEART SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
25 %
HALLERMANN-STREIFF SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
25 %
OCULODENTODIGITAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
25 %
Craniometaphyseal Dysplasia , Sequencing GJA1 Gene.

By Reference Laboratory Genetics in Spain.

GJA1
Specificity
100 %
Genes
25 %
Hypoplastic Left Heart Syndrome , Sequencing GJA1 Gene.

By Reference Laboratory Genetics in Spain.

GJA1
Specificity
100 %
Genes
25 %
Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes.

By Reference Laboratory Genetics in Spain.

ANKH, GJA1
Specificity
50 %
Genes
25 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
GJB3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
GJB3. Complete sequencing.

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

GJB3
Specificity
100 %
Genes
25 %
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
25 %
Congenital deafness (sequence analysis of GJB3 gene).

By CGC Genetics in Portugal.

GJB3
Specificity
100 %
Genes
25 %
Erythrokeratodermia variabilis (sequence analysis of GJB3 gene).

By CGC Genetics in Portugal.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene.

By PreventionGenetics PreventionGenetics in United States.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
DFNA 2B Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

GJB3
Specificity
100 %
Genes
25 %
Erythrokeratodermia variabilis et progressive.

By Centogene AG - the Rare Disease Company in Germany.

GJB3
Specificity
100 %
Genes
25 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
25 %
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
25 %
Deafness, autosomal dominant type 2B.

By Centogene AG - the Rare Disease Company in Germany.

GJB3
Specificity
100 %
Genes
25 %
Deafness, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

GJB3
Specificity
100 %
Genes
25 %
DFNA 2B Nonsyndromic Hearing Loss and Deafness.

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

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Single gene testing GJB3.

By CeGaT GmbH in Germany.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
GJB3.

By Division Human Genetics Medical University Innsbruck in Austria.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
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
25 %
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
25 %
GJB3.

By Fulgent Genetics Fulgent Genetics in United States.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
Neuropathy with sensorineural deafness.

By Bioarray in Spain.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Neuropathy with Hearing Loss , Sequencing GJB3 Gene.

By Reference Laboratory Genetics in Spain.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
Autosomal dominant deafness Type 2B: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB3
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Erythrokeratodermia variabilis et progressiva: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB3
Specificity
100 %
Genes
25 %
Autosomal recessive deafness: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GJB3
Specificity
100 %
Genes
25 %

Alternate names

Erythrokeratodermia Variabilis Et Progressiva 1; Ekvp1 Is also known as erythrokeratodermia variabilis et progressiva;ekvp, erythrokeratodermia variabilis;ekv, erythrokeratodermia, progressive symmetric;psek, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia variabilis with erythema gyratum repens;ekv; erythrokeratodermia variabilis, mendes da costa type.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WOLF-HIRSCHHORN SYNDROME MYOPATHY, CENTRONUCLEAR, 1; CNM1 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

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