HCCS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Mitochondrial disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Ocular coloboma

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Pigmentary skin disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• Microphthalmia with linear skin defects syndrome

  0.80

• neurodegenerative disease

  0.53

• linear skin defects with multiple congenital anomalies

  0.46

• eye disorder

  0.37

• Strabismus

  0.30

• lysosomal storage disease

  0.27

• hereditary disease

  0.19

• neoplasm

  0.09

• cancer

  0.08

• breast cancer

  0.08

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

Protein function (UniProt)