TSPOAP1

TSPO associated protein 1
OMIM: 610764, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TSPOAP1 in Intellectual disability


Level 2: Developmental disorders
Version 9.280
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Dystonia, intellectual disability and cerebellar atrophy
    Green TSPOAP1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Dystonia, intellectual disability and cerebellar atrophy