DKC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cerebellar hypoplasia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• COVID-19 research

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cytopenia - NOT Fanconi anaemia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cytopenias and congenital anaemias

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Familial pulmonary fibrosis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

+13 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• dyskeratosis congenita, X-linked

  0.85

• dyskeratosis congenita

  0.81

• Hoyeraal-Hreidarsson syndrome

  0.72

• neurodegenerative disease

  0.52

• DKC1-related disorder

  0.49

• acute myeloid leukemia with minimal differentiation

  0.46

• cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

  0.46

• isolated cerebellar hypoplasia/agenesis

  0.26

• pulmonary fibrosis

  0.15

• immunodeficiency disease

  0.12

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

Protein function (UniProt)