TOR1AIP1

torsin 1A interacting protein 1
OMIM: 614512
PanelMode of inheritanceDetails
2 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072, Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072, Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900