TXNDC15

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• meckel syndrome 14

  0.74

• Meckel syndrome

  0.53

• ciliopathy

  0.37

• neurodegenerative disease

  0.31

• hereditary disease

  0.19

• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

  0.12

• Meckel syndrome, type 1

  0.03

• ovarian carcinoma

  0.02

• Parkinson disease

  0.01

• Joubert syndrome

  0.01

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

Protein function (UniProt)