TSPOAP1

TSPO associated protein 1
OMIM: 610764, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TSPOAP1 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Dystonia 22, MIM# 620453

Red TSPOAP1 in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Dystonia 22, MIM# 620453

Green TSPOAP1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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