TINF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cerebellar hypoplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+14 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• dyskeratosis congenita, autosomal dominant 3

  0.81

• dyskeratosis congenita

  0.80

• Revesz syndrome

  0.75

• neurodegenerative disease

  0.53

• acute myeloid leukemia with minimal differentiation

  0.46

• Hoyeraal-Hreidarsson syndrome

  0.38

• pyogenic granuloma

  0.13

• pulmonary fibrosis

  0.12

• autosomal recessive congenital ichthyosis

  0.12

• pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

  0.12

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

Protein function (UniProt)