TCTN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome

  0.77

• Meckel syndrome

  0.74

• Joubert syndrome and related disorders

  0.58

• Meckel syndrome, type 6

  0.45

• focal segmental glomerulosclerosis

  0.27

• hereditary disease

  0.19

• microcephaly

  0.11

• cancer

  0.07

• holoprosencephaly

  0.05

• Adams-Oliver syndrome

  0.05

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

Protein function (UniProt)

Diseases associated with TCTN2

Curated MONDO disease pages that list TCTN2 among their top associated genes.

• Joubert syndromeRare