RNU6ATAC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neonatal diabetes mellitus

  0.26

• neurodevelopmental disorder

  0.25

• alopecia

  0.23

• hypothyroidism

  0.23

• cerebellar ataxia

  0.18

• Growth delay

  0.18

• vitiligo

  0.18

• Failure to thrive

  0.18

• Ataxia

  0.18

• Seizure

  0.18

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