FRRS1L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• genetic developmental and epileptic encephalopathy

  0.72

• Chorea

  0.47

• Seizure

  0.47

• Progressive encephalopathy

  0.47

• hereditary disease

  0.41

• autosomal recessive non-syndromic intellectual disability

  0.37

• obesity disorder

  0.29

• ovarian dysfunction

  0.25

• type 2 diabetes mellitus

  0.12

• epilepsy

  0.12

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

Protein function (UniProt)

Diseases associated with FRRS1L

Curated MONDO disease pages that list FRRS1L among their top associated genes.

• genetic developmental and epileptic encephalopathyRare