KIDINS220

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe early-onset obesity

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• spastic paraplegia, intellectual disability, nystagmus, and obesity

  0.79

• ventriculomegaly and arthrogryposis

  0.70

• neurodegenerative disease

  0.44

• hereditary disease

  0.39

• Limb joint contracture

  0.37

• autoimmune disorder of central nervous system

  0.37

• hereditary spastic paraplegia

  0.35

• exostosis

  0.32

• response to xenobiotic stimulus

  0.29

• cerebral palsy

  0.27

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

Protein function (UniProt)