RUSC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual disability, autosomal recessive 61

  0.60

• diabetic eye disease

  0.23

• gastritis

  0.16

• Stuve-Wiedemann syndrome 2

  0.12

• ovarian dysfunction

  0.07

• inherited retinal dystrophy

  0.04

• epilepsy

  0.03

• autoimmune disease

  0.02

• lung cancer

  0.02

• lung carcinoma

  0.02

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

Protein function (UniProt)