Genomics England

TOR1AIP1

torsin 1A interacting protein 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.6	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
Green in Congenital myaesthenic syndrome Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R80 Signed-off version 4.11	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072, congenital myasthenic syndrome
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.40	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
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072