TOR1AIP1

torsin 1A interacting protein 1
OMIM: 614512, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TOR1AIP1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures
Green TOR1AIP1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Congenital myasthenic syndrome
Green TOR1AIP1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures
Red TOR1AIP1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Dystonia, cerebellar atrophy, and cardiomyopathy
Amber TOR1AIP1 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Congenital myasthenic syndrome
Green TOR1AIP1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 TOR1AIP1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707 congenital myasthenic syndrome