TPR

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red TPR in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

    Red TPR in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology