RSPH1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

• Respiratory ciliopathies including non-CF bronchiectasis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• primary ciliary dyskinesia

  0.75

• vitreous body disorder

  0.25

• neurodegenerative disease

  0.23

• hereditary disease

  0.19

• spermatogenic failure

  0.08

• non-syndromic male infertility due to sperm motility disorder

  0.07

• male infertility with azoospermia or oligozoospermia due to single gene mutation

  0.07

• partial chromosome Y deletion

  0.06

• spermatogenic failure 54

  0.06

• spermatogenic failure 100

  0.06

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

Protein function (UniProt)