Adult onset neurodegenerative disorder
Gene: VPS13A
progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life - >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex parkinsonism; Complex parkinsonism; 200150; Choreoacanthocytosis
Age of onset 23-59 years with Chorea-acanthocytosis phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex parkinsonism; Complex parkinsonism; 200150; Choreoacanthocytosis
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis, OMIM:200150 to Choreoacanthocytosis, OMIM:200150
Phenotypes for gene: VPS13A were changed from complex parkinsonism; Complex parkinsonism; 200150; Choreoacanthocytosis to Choreoacanthocytosis, OMIM:200150
Source Wessex and West Midlands GLH was added to VPS13A.
Source Yorkshire and North East GLH was added to VPS13A.
Source NHS GMS was added to VPS13A.
Source London North GLH was added to VPS13A.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Complex parkinsonism; 200150; Choreoacanthocytosis for gene: VPS13A
gene: VPS13A was added gene: VPS13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 11381253 Phenotypes for gene: VPS13A were set to complex parkinsonism