Genomics England
GMS Panels
Panels
Genes and Entities

TSPOAP1

TSPO associated protein 1
OMIM: 610764
PanelMode of inheritanceDetails
2 panels
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy