ANAPC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Cutaneous photosensitivity with a likely genetic cause

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ectodermal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Ectodermal dysplasia without a known gene mutation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Rothmund-Thomson syndrome type 1

  0.77

• Rothmund-Thomson syndrome

  0.37

• Splenomegaly

  0.28

• Alzheimer disease

  0.28

• injury

  0.28

• otosclerosis

  0.28

• lymphatic system disorder

  0.21

• atopic eczema

  0.14

• allergic rhinitis

  0.14

• Eczematoid dermatitis

  0.13

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

Protein function (UniProt)