HYLS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  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

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Disease associations (Open Targets)

• Hydrolethalus

  0.79

• hydrolethalus syndrome

  0.71

• Joubert syndrome

  0.62

• severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

  0.54

• neurodegenerative disease

  0.45

• hereditary disease

  0.34

• Isolated anencephaly/exencephaly

  0.33

• anencephaly

  0.33

• Ankle flexion contracture

  0.33

• Polyhydramnios

  0.33

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

Protein function (UniProt)