SNX14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive spinocerebellar ataxia 20

  0.79

• Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

  0.73

• Abnormality of the skeletal system

  0.53

• Spinocerebellar atrophy

  0.34

• neurodegenerative disease

  0.32

• neurodevelopmental disorder

  0.30

• cerebellar ataxia

  0.27

• Abnormal brain morphology

  0.27

• Seizure

  0.26

• Global developmental delay

  0.26

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

Protein function (UniProt)