POLR1C

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Deafness and congenital structural abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism

  0.75

• hypomyelinating leukodystrophy 11

  0.74

• Treacher Collins syndrome 3

  0.72

• Treacher-Collins syndrome

  0.69

• Hypomyelination - hypogonadotropic hypogonadism - hypodontia

  0.61

• POLR1C-related disorder

  0.56

• hereditary disease

  0.41

• leukodystrophy

  0.38

• hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

  0.37

• Hearing impairment

  0.15

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

Protein function (UniProt)