LINS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual disability, autosomal recessive 27

  0.73

• autosomal recessive non-syndromic intellectual disability

  0.57

• hereditary disease

  0.39

• complex neurodevelopmental disorder

  0.37

• Intellectual disability

  0.34

• autism

  0.33

• early-onset non-syndromic cataract

  0.12

• Total congenital cataract

  0.11

• Posterior polar cataract

  0.11

• microcephaly

  0.11

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