CYP4F22

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

Disease associations (Open Targets)

• lamellar ichthyosis

  0.74

• autosomal recessive congenital ichthyosis

  0.39

• placenta praevia

  0.26

• hereditary disease

  0.19

• ichthyosis

  0.16

• atopic eczema

  0.15

• bladder exstrophy

  0.12

• erythrokeratodermia variabilis

  0.06

• congenital non-bullous ichthyosiform erythroderma

  0.06

• Dowling-Degos disease

  0.06

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

Protein function (UniProt)