Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns

Genes related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive; Ebns

EXPH5

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 Panel GTR000514634 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN 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 Panel GTR000559083 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 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 Panel GTR000559122 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 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 Panel GTR000559162 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 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 Panel GTR000552613 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1, CSTA, MMP1 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 Panel GTR000552663 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1, KRT1, DSG1, DSG4, ATP2C1 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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