Panel 06 · Dermatology

Epidermolysis Bullosa Panel

Inherited epidermolysis bullosa and congenital skin-fragility disorders.

Panel number
06 of 58
Clinical category
Dermatology
Genes on this panel
72
Original panel title
Epidermolizis Büllosa Paneli
Source version
PANEL LİSTESİ V9
Requested via
Rare Disease Genomics

Gene content

72 genes

All 72 gene symbols in source order
  • ABCA12
  • ALOX12B
  • ALOXE3
  • ARHGAP31
  • BMS1
  • CD151
  • CHUK
  • COL17A1
  • COL7A1
  • CSTA
  • CYP4F22
  • DLL4
  • DOCK6
  • DSC2
  • DSC3
  • DSG1
  • DSG2
  • DSG3
  • DSG4
  • DSP
  • DST
  • EOGT
  • ERCC2
  • ERCC3
  • EXPH5
  • FERMT1
  • FLG
  • GBA
  • GJA1
  • GJB2
  • GJB3
  • GJB4
  • GJB6
  • GTF2H5
  • ITGA3
  • ITGA6
  • ITGB4
  • JUP
  • KRT1
  • KRT10
  • KRT14
  • KRT16
  • KRT17
  • KRT2
  • KRT5
  • KRT6A
  • KRT6B
  • KRT6C
  • KRT9
  • LAMA3
  • LAMB3
  • LAMC2
  • LIPN
  • LOR
  • MBTPS2
  • MMP1
  • NIPAL4
  • NOTCH1
  • PKP1
  • PLEC
  • PLOD3
  • PNPLA1
  • POMP
  • RBPJ
  • RIPK4
  • RSPO4
  • SLC27A4
  • SPINK5
  • STS
  • TGM1
  • TGM5
  • TP63

Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.