1. Genes and Genomic Entities
  2. TPR

TPR

translocated promoter region, nuclear basket protein
OMIM: 189940, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red TPR in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Cerebellar ataxia, MONDO:0000437
    Red TPR in Severe microcephaly


    Level 2: Neurology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Microcephaly, MONDO:0001149
    Red TPR in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071