SEPSECS

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

• Early onset or syndromic epilepsy

  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

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• pontocerebellar hypoplasia type 2D

  0.76

• progressive cerebello-cerebral atrophy

  0.67

• pontocerebellar hypoplasia type 2

  0.67

• pontocerebellar hypoplasia

  0.66

• neurodegenerative disease

  0.54

• hereditary disease

  0.50

• Non-syndromic pontocerebellar hypoplasia

  0.50

• spastic ataxia

  0.34

• Seizure

  0.27

• Kyphosis

  0.27

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

Protein function (UniProt)