VPS13A

vacuolar protein sorting 13 homolog A
OMIM: 605978, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green VPS13A in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Choreoacanthocytosis MIM#200150
Green VPS13A in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes chorea-acanthocytosis MONDO:0008695
Green VPS13A in Incidentalome Version 0.301	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green VPS13A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Choreoacanthocytosis MIM#200150
Green VPS13A 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 Green Royal Melbourne Hospital Phenotypes complex parkinsonism Choreoacanthocytosis 200150
Green VPS13A in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chorea-acanthocytosis MONDO:0008695
Green VPS13A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Choreoacanthocytosis, 200150 (3)
Green VPS13A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Choreoacanthocytosis
Red VPS13A in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Choreoacanthocytosis, 200150 (3)
Red VPS13A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Choreoacanthocytosis MIM#200150