TSEN54

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• 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

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• pontocerebellar hypoplasia type 4

  0.80

• pontocerebellar hypoplasia type 2A

  0.78

• pontocerebellar hypoplasia type 2

  0.66

• pontocerebellar hypoplasia type 5

  0.64

• pontocerebellar hypoplasia

  0.62

• Non-syndromic pontocerebellar hypoplasia

  0.52

• Olivopontocerebellar hypoplasia

  0.51

• hereditary disease

  0.50

• Global developmental delay

  0.43

• methylmalonic aciduria and homocystinuria type cblD

  0.43

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

Protein function (UniProt)