HAX1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Kostmann syndrome

  0.82

• severe congenital neutropenia

  0.68

• acute myeloid leukemia with minimal differentiation

  0.46

• hereditary disease

  0.42

• Decreased total neutrophil count

  0.26

• neutropenia

  0.26

• neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

  0.12

• breast cancer

  0.10

• breast carcinoma

  0.10

• nasopharyngeal carcinoma

  0.10

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

Protein function (UniProt)