SNAP29

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Vici Syndrome and other autophagy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• CEDNIK syndrome

  0.79

• hypomyelinating leukodystrophy 2

  0.42

• hereditary disease

  0.41

• Alzheimer disease

  0.21

• neurodegenerative disease

  0.21

• Parkinson disease

  0.21

• lysosomal storage disease

  0.20

• multiple sclerosis

  0.20

• spastic paraplegia 84, autosomal recessive

  0.15

• polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

  0.12

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

Protein function (UniProt)