TTC21B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• Extreme early-onset hypertension

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• nephronophthisis

  0.83

• Jeune syndrome

  0.75

• Infantile nephronophthisis

  0.52

• Retinal dystrophy

  0.50

• short-rib thoracic dysplasia 6 with or without polydactyly

  0.45

• alcohol drinking

  0.43

• Beemer-Langer syndrome

  0.42

• nephrotic syndrome

  0.42

• hereditary disease

  0.42

• Senior-Loken syndrome

  0.41

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

Protein function (UniProt)

Diseases associated with TTC21B

Curated MONDO disease pages that list TTC21B among their top associated genes.

• nephronophthisisRare