TOR1A

torsin family 1 member A
OMIM: 605204, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TOR1A in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita, MIM#618947
Red TOR1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Dystonia-1, torsion, MIM#128100
Green TOR1A in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, MIM#618947 Dystonia-1, torsion, MIM#128100
Green TOR1A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TOR1A in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant or sporadic dystonia (DYT1) Early-Onset Primary Dystonia Dystonia-1, torsion, 128100
Green TOR1A in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218