ANKS6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Tubulointerstitial kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• nephronophthisis 16

  0.80

• nephronophthisis

  0.70

• nephronophthisis 2

  0.38

• Infantile nephronophthisis

  0.37

• Juvenile nephronophthisis

  0.37

• type 2 diabetes mellitus

  0.27

• sleep apnea syndrome

  0.20

• hereditary disease

  0.19

• atrial fibrillation

  0.11

• Heterotaxia

  0.09

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

Protein function (UniProt)

Diseases associated with ANKS6

Curated MONDO disease pages that list ANKS6 among their top associated genes.

• nephronophthisisRare