Ectodermal Dysplasia/short Stature Syndrome; Ectds

Description

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.

Genes related to Ectodermal Dysplasia/short Stature Syndrome; Ectds

GRHL2

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia/short Stature Syndrome; Ectds

Short stature
Hearing impairment
Sensorineural hearing impairment
Dysphagia
Abnormality of the dentition
Hyperkeratosis
Hyperhidrosis
Nail dystrophy
Hypodontia
Epidermal acanthosis

And another 5 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.

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Ectodermal Dysplasia/short Stature Syndrome; Ectds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel GTR000560763 complete gene list ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, KARS, CISD2, MYO7A, TIMM8A, AIFM1, MANBA, ALMS1, SLC22A4, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, PMP22, FGFR1, COL4A4, BSND, SLC12A1, COL4A5, TBC1D24, NR2F1, KCNJ10, TBX1, SALL1, ACTB, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, RIPOR2, CEMIP, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2 Specificity 1 % 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 Panel GTR000548231 complete gene list USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, GIPC3, EDN3, CLPP, HGF, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, MT-TS1, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF Specificity 2 % 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 Panel GTR000323596 complete gene list USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ALMS1, SLC22A4, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, MT-TL1, FGFR1, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, TBX1, ACTG1, ADCY1, BDP1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, TCOF1, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, MT-RNR1, GPSM2, CATSPER2, MITF, CRYL1, KITLG, LOXL3 Specificity 1 % 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 Panel GTR000528548 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, COL9A1, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, NLRP3, DIAPH1, DNMT1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, DTD1, MYO1A, MASP1 Specificity 1 % Genes 100 %
GRHL2. By Institute for Human Genetics University Clinic Freiburg in Germany. GRHL2 Specificity 100 % 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 Panel GTR000509148 complete gene list USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, ALMS1, HARS2, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SNAI2, SERPINB6, SOX10, STRC, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, CD164, CDC14A, GSDME, ESRRB, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, MT-RNR1, GPSM2, CATSPER2, MITF, KITLG, SLC52A2, SLC52A3, CEP78 Specificity 1 % 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 Panel GTR000515701 complete gene list USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, DNMT1, KCNQ4, ESPN, STRC, TECTA, TMPRSS3, RDX, SMPX, TMC1, GSDME, ESRRB, GJB3, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TMIE, TRIOBP, TPRN, CEACAM16, GPSM2, MYO1A, MASP1 Specificity 2 % 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 Panel GTR000553458 complete gene list ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2, CISD2, MYO7A, TIMM8A, ALMS1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ATP6V1B2, ATP6V1B1, CIB2, CABP2, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC4A11, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, LRTOMT, LHFPL5, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, GRXCR2, GPSM2, MITF, SLC52A2, SLC52A3 Specificity 1 % Genes 100 %
Deafness, autosomal dominant 28 (sequence analysis of GRHL2 gene). By CGC Genetics in Portugal. GRHL2 Specificity 100 % 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 Panel GTR000523503 complete gene list EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, DIAPH3, CEACAM16, MYO1A, TMC2 Specificity 4 % 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 Panel GTR000523804 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, SLC12A1, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, POLR1C, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TFAP2A, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, GPSM2, MITF, MYO1A, TMC2 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 Panel GTR000523911 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, OTOG, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, GPSM2, MYO1A, TMC2 Specificity 2 % 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 Panel GTR000512285 complete gene list EYA4, DIABLO, MSRB3, GJB2, GJB6, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PRPS1, RDX, SMPX, TMC1, ESRRB, FGF3, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, GPSM2 Specificity 3 % Genes 100 %
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene. By PreventionGenetics PreventionGenetics in United States. GRHL2 Specificity 100 % Genes 100 %
DFNA28 Nonsyndromic Hearing Loss and Deafness. By Bioscientia GmbH Center for Human Genetics in Germany. GRHL2 Specificity 100 % Genes 100 %
Deafness, autosomal dominant type 28. By Centogene AG - the Rare Disease Company in Germany. GRHL2 Specificity 100 % 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 Panel GTR000522372 complete gene list EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, POU3F4, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL4A6, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, PRPS1, SMPX, TNC, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, DIAPH3, CEACAM16, MYO1A, TMC2 Specificity 3 % Genes 100 %
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 Panel GTR000522393 complete gene list BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2, NFKBIA, PKP1, KRT14, CDSN, EDA, UBR1, PIGL, KRT86, KRT81, KRT83, MPLKIP, EDAR, GTF2H5, ST14, WNT10A, DSG4, EDARADD, TRPS1, ANTXR1, HR, TWIST2, DLX3, LPAR6, KRT74, MSX1, KCTD1, HOXC13, KRT85, SNRPE, APCDD1, LIPH, BANF1, NECTIN1, NECTIN4, CYP26C1 Specificity 2 % 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 Panel GTR000512701 complete gene list USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND, KCNJ10, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, ESPN, SLC17A8, SERPINB6, STRC, MT-TS1, TECTA, TMPRSS3, PRPS1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FOXI1, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, GPSM2, MYO1A Specificity 2 % 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 Panel GTR000531428 complete gene list EYA4, WFS1, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, CEACAM16, MYO1A 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 Panel GTR000531429 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, PJVK, MARVELD2, DIAPH1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PTPRQ, RDX, TMC1, GSDME, ESRRB, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, GPSM2, MYO1A Specificity 2 % 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 Panel GTR000512601 complete gene list ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ABHD5, ALMS1, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, SALL1, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, P2RX2, SIX5, SLC17A8, SERPINB6, SOX10, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, CEACAM16, OTOGL, TMEM132E, ELMOD3, SYNE4, GRXCR2, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, MYO1A, MASP1 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 Panel GTR000560677 complete gene list ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, DNMT1, KCNQ4, SLC17A8, SERPINB6, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, RPS6KA3, GPSM2, SALL4, SLC29A3, MYO1A, MASP1 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 Panel GTR000510709 complete gene list USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2, GJB6, POU3F4, PMP22, BSND, KCNJ10, ACTB, ACTG1, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, EDN3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, SLC4A11, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, ATP2B2, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, SPINK5, MTAP, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F Specificity 1 % Genes 100 %
GRHL2. By Fulgent Genetics Fulgent Genetics in United States. GRHL2 Specificity 100 % 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 Panel GTR000552698 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, SUCLA2, MYO7A, TIMM8A, AIFM1, MANBA, MAN2B1, SUCLG1, ALMS1, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, MET, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, SLC33A1, TBC1D24, SPATA5, KCNJ10, SALL1, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, PEX26, RPS6KA3, GPSM2, MITF, SALL4, GJA1, DCAF17, SLC29A3, MGP, LRP2, SLC52A2, SLC52A3, CEP78, RMND1, FDXR, WBP2 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 Panel GTR000552702 complete gene list USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1, CIB2, CABP2, COCH, CLDN14, CCDC50, CLIC5, GIPC3, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, PNPT1, OTOG, DIAPH1, DCDC2, KCNQ4, ESPN, P2RX2, SLC17A8, SERPINB6, STRC, TECTA, TMPRSS3, RIPOR2, PRPS1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, GSDME, ESRRB, GJB3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, GPSM2, WBP2 Specificity 2 % 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 Panel GTR000552366 complete gene list USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3, GJB2, GJB6, POU3F4, PMP22, GJB1, MT-TL1, MT-TK, BSND, NR2F1, KCNJ10, ACTB, ACTG1, ATP6V1B2, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, STRC, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, CEMIP, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2, FAS, SPINK5, GJB4, MTAP, ECE1, HAL, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F, OTOR, MIR182, TFCP2, MIR183 Specificity 1 % 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 Panel GTR000559696 complete gene list EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC, TMC1, GSDME, GJB3, MIR96, MYH14, MYH9, POU4F3, TJP2, CEACAM16, KITLG, MYO1A Specificity 4 % Genes 100 %

Alternate names

Ectodermal Dysplasia/short Stature Syndrome; Ectds Is also known as ;ectodermal dysplasia-short stature syndrome; short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome.

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