TOR1A

torsin family 1 member A
OMIM: 605204, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red TOR1A in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441
Green TOR1A in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Dystonia-1, torsion, OMIM:128100 Arthrogryposis multiplex congenita 5, OMIM:618947
Green TOR1A in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441
Green TOR1A in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441
Red TOR1A in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.19 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441
Green TOR1A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.158 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218
Green TOR1A in DDG2P Version 6.427 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOR1A-associated arthrogryposis multiplex congenita (AR)
Green TOR1A in Intellectual disability Level 2: Developmental disorders Version 9.325 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218
Green TOR1A in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441
Green TOR1A in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Dystonia-1, torsion, OMIM:128100 Arthrogryposis multiplex congenita 5, OMIM:618947