TSPOAP1

TSPO associated protein 1
OMIM: 610764
PanelMode of inheritanceDetails
2 panels
R-numbers: R57
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy