VPS13A

vacuolar protein sorting 13 homolog A
OMIM: 605978, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green VPS13A in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
Phenotypes
  • Choreoacanthocytosis MIM#200150

Green VPS13A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • chorea-acanthocytosis MONDO:0008695

Green VPS13A in Incidentalome


Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis MIM#200150

Green VPS13A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis MIM#200150

Green VPS13A in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • complex parkinsonism
  • Choreoacanthocytosis 200150

Green VPS13A in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • chorea-acanthocytosis MONDO:0008695

Green VPS13A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis, 200150 (3)

Green VPS13A in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Choreoacanthocytosis

Red VPS13A in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Red
Phenotypes
  • Choreoacanthocytosis, 200150 (3)