GC_17 Ectodermal dysplasia
Ectodermal dysplasias are inherited disorders affecting tissues derived primarily from the ectoderm, including the hair, teeth, nails, sweat glands, and skin. Clinical manifestations may include hypotrichosis, abnormal or missing teeth, nail dystrophy, reduced or absent sweating with heat intolerance, and variable craniofacial, ocular, immune, or other systemic abnormalities.
This panel includes genes associated with the major forms of hypohidrotic and hidrotic ectodermal dysplasia, ectodermal dysplasia with immune deficiency, ectodermal dysplasia with clefting, and other syndromic disorders involving multiple ectodermal structures.
This panel is recommended for patients with abnormalities of the hair, teeth, nails, sweat glands, or skin suggestive of ectodermal dysplasia, particularly when multiple ectodermal structures are affected or additional syndromic features are present.
Last update: 26.01.2026
ANAPC1, ANTXR1, APCDD1, ATP7A, AXIN2, BCS1L, BMP4, C3orf52, CDH3, CDSN, CLDN1, CTSC, DLX3, DSC3, DSG4, DSP, EDA, EDAR, EDARADD, EGFR, ERCC2, ERCC3, ERCC8, EVC, EVC2, FOSL2, FZD6, GJA1, GJB2, GJB6, GRHL2, GTF2E2, GTF2H5, HLA-DRA, HOXC13, HR, IFT122, IKBKG, IRF6, JUP, KANK2, KDF1, KREMEN1, KRT14, KRT16, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, LEF1, LIPH, LPAR6, LRP6, LSS, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, PADI3, PAX9, PKP1, POC1A, PORCN, PPP1R13L, PRKD1, PTH1R, RIN2, RIPK4, RMRP, RNF113A, RPL21, RSPO4, SDR9C7, SMOC2, SNRPE, SOX18, SPINK5, SREBF1, ST14, TFAP2B, TP63, TRPS1, TRPV3, TSPEAR, TUFT1, TWIST2, VDR, WDR35, WNT10A, WNT10B
GC_42 Hidradenitis Suppurativa
Hidradenitis suppurativa (HS) is a chronic inflammatory disorder characterized by recurrent painful nodules, abscesses, sinus tract formation, and scarring, most commonly affecting intertriginous areas. Although most cases are multifactorial, a subset of patients with early-onset, familial, severe, or syndromic disease may have an identifiable monogenic cause or genetic predisposition.
This panel includes genes associated with familial hidradenitis suppurativa, disorders of γ-secretase signaling, and selected follicular occlusion and autoinflammatory syndromes that may present with hidradenitis-like disease.
This panel is recommended for patients with severe, early-onset, familial, or syndromic hidradenitis suppurativa, particularly when accompanied by acne conglobata, pyoderma gangrenosum, sterile arthritis, or other inflammatory or follicular-occlusion manifestations.
Last update: 18.01.2026
FGFR2, GJB2, NCSTN, PSEN1, PSENEN, PSTPIP1
GC_46 Epidermolysis Bullosa and Peeling Skin Syndrome
Epidermolysis bullosa (EB) and related peeling skin disorders are inherited conditions characterized by skin fragility, blistering, erosions, peeling, or impaired wound healing, often following minor trauma. Disease severity ranges from localized skin involvement to severe multisystem disease with mucosal involvement, scarring, nail abnormalities, and nutritional or other systemic complications.
This panel includes genes associated with the major forms of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, peeling skin syndromes, and related inherited skin-fragility disorders.
This panel is recommended for patients with suspected inherited skin fragility, recurrent blistering, erosions, or peeling, particularly when trauma-induced blistering is a prominent clinical feature.
Last update: 18.01.2026
ATP2A2, ATP2C1, CAST, CD151, CDSN, COL17A1, COL7A1, CSTA, CTSB, DSC3, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, FLG2, GRIP1, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, NAXD, PKP1, PLEC, PLOD3, SERPINB8, SLC39A4, SLC39A7, TGM5, TUFT1
GC_48 Ichthyosis and erythrokeratoderma
Ichthyosis and erythrokeratoderma comprise a heterogeneous group of inherited disorders of epidermal differentiation and keratinization. Clinical manifestations may include generalized or localized scaling, hyperkeratosis, erythroderma, palmoplantar keratoderma, or fixed or migratory erythematous plaques. Some forms are isolated, whereas others are associated with neurologic, metabolic, hair, nail, immune, or other systemic abnormalities.
This panel includes genes associated with the major forms of autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, X-linked ichthyosis, erythrokeratoderma, Netherton syndrome, and other inherited disorders of keratinization.
This panel is recommended for patients with congenital or persistent scaling, erythroderma, hyperkeratosis, palmoplantar keratoderma, or other findings suggestive of an inherited disorder of keratinization, particularly when blistering is not the predominant feature.
Last update: 15.01.2026
AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1B1, AP1S1, AQP5, ASPRV1, ATP2A2, ATP2C1, CARD14, CASP14, CAST, CDSN, CERS3, CLDN1, CLDN10, CSTA, CTSC, CYP4F22, DBR1, DSC2, DSG1, DSP, EBP, ELOVL1, ELOVL4, ENPP1, ERCC2, ERCC3, FAM83G, FDPS, FLG, FLG2, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, GTF2H5, JUP, KDSR, KLK11, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LORICRIN, LSS, MBTPS2, MPDU1, MPLKIP, MSMO1, MVD, MVK, NIPAL4, NLRP1, OSMR, PERP, PEX7, PHYH, PIGL, PKP1, PMVK, PNPLA1, POMP, RHBDF2, RSPO1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SLURP1, SMARCAD1, SNAP29, SPINK5, SREBF1, ST14, STS, SULT2B1, SUMF1, TAT, TGM1, TGM5, TRPM4, TRPV3, VIPAS39, VPS33B, WNT10A, ZMPSTE24
ClinVar P/LP variants (IDs) not covered: TGM1:[4076952]; [4076953]