SDR9C7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Autosomal recessive congenital ichthyosis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Ectodermal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Familial cicatricial alopecia

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ichthyosis, congenital, autosomal recessive 13

  0.69

• lamellar ichthyosis

  0.60

• Ichthyosis-hypotrichosis syndrome

  0.56

• inherited ichthyosis

  0.49

• congenital non-bullous ichthyosiform erythroderma

  0.38

• congenital reticular ichthyosiform erythroderma

  0.38

• Abnormality of the skeletal system

  0.29

• intellectual disability, autosomal recessive 53

  0.27

• hereditary disease

  0.19

• ichthyosis

  0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)