Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns

Clinical Features

Phenotypes and symptoms related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns

  • Hyperkeratosis
  • Abnormality of the nervous system
  • Abnormal bleeding
  • Hypopigmentation of the skin
  • Epidermal acanthosis
  • Skin vesicle
  • Atrophic scars
  • Fragile skin

Incidence and onset information

Not enough data available about incidence and published cases.


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Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

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

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
EXPH5 Gene Sequencing.

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

EXPH5
Specificity
100 %
Genes
100 %
EXPH5 Deletion/duplication analysis.

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

EXPH5
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

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

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, TGM5, ITGA3, PKP1, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN
Specificity
5 %
Genes
100 %
EXPH5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

EXPH5
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics in Portugal.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
100 %
Epidermolysis bullosa Comprehensive panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa NGS panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epidermolysis bullosa panel.

By Centogene AG - the Rare Disease Company in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Genetic Epidermolyses and blistering disorders Panel.

By CeGaT GmbH in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
100 %
EXPH5.

By Fulgent Genetics Fulgent Genetics in United States.

EXPH5
Specificity
100 %
Genes
100 %
Epidermolysis Bullosa Panel.

By Blueprint Genetics in Finland.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
EPIDERMOLISIS BULLOSA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
5 %
Genes
100 %

Alternate names

Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns Is also known as ;ebs-ar exophilin 5.



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