RNU7-1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Aicardi-Goutieres syndrome 9

  0.55

• Aicardi-Goutieres syndrome

  0.38

• Aicardi-Goutières syndrome

  0.37

• RNU7-1-related type 1 interferonopathy

  0.18

• X-linked reticulate pigmentary disorder

  0.00

• osteoporosis

  0.00

• Aicardi-Goutieres syndrome 1

  0.00

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