FSD1L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital hydrocephalus

  0.34

• neurodevelopmental disorder

  0.28

• neurodegenerative disease

  0.26

• gastric carcinoma

  0.26

• carcinoma of esophagus

  0.25

• lens disorder

  0.24

• diabetes mellitus

  0.20

• retinitis pigmentosa

  0.19

• complex neurodevelopmental disorder

  0.18

• mathematical ability

  0.06

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