TOR1AIP1:Ensemblv115

torsin 1A interacting protein 1
OMIM: 614512, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TOR1AIP1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures
Green TOR1AIP1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Literature Expert Review Green 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 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Dystonia, cerebellar atrophy, and cardiomyopathy
Amber TOR1AIP1 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Congenital myasthenic syndrome
Green TOR1AIP1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900