Structural basal ganglia disorders
Gene: VPS13A
VPS13A (vacuolar protein sorting 13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 10 variants reportedCreated: 16 Mar 2017, 12:53 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Choreoacanthocytosis 200150
- OMIM
- 605978
- Clinvar variants
- Variants in VPS13A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
16 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for VPS13A were set to 11381253; 11381254; 14663054
16 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)VPS13A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)VPS13A was created by sleigh
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)VPS13A was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services