SCLT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  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

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

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Disease associations (Open Targets)

• Retinal dystrophy

  0.52

• Sjogren-Larsson syndrome

  0.47

• Bardet-Biedl syndrome

  0.44

• congenital hypothalamic hamartoma syndrome

  0.41

• Nystagmus

  0.41

• Global developmental delay

  0.41

• Opsoclonus

  0.41

• Astigmatism

  0.41

• Hypermetropia

  0.41

• Fetal anomaly

  0.37

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

Protein function (UniProt)