ACD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Haematological malignancies cancer susceptibility

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Pulmonary fibrosis familial

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours cancer susceptibility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dyskeratosis congenita, autosomal dominant 6

  0.73

• dyskeratosis congenita

  0.68

• Hoyeraal-Hreidarsson syndrome

  0.64

• neurodegenerative disease

  0.52

• acute myeloid leukemia with minimal differentiation

  0.46

• ACD-related short telomere syndrome

  0.37

• hereditary isolated aplastic anemia

  0.37

• inherited aplastic anemia

  0.37

• hereditary disease

  0.19

• hypotrichosis simplex

  0.07

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

Protein function (UniProt)