Hereditary ataxia with onset in adulthood
Gene: VPS13D
9 DM in HGMD. 7 reports on OMIM.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.Created: 15 Apr 2019, 10:21 a.m.
Sufficient families across the two papers plus functional evidence for gene itself in the secondCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 4, 608877
Source London North GMS was added to VPS13D.
Added phenotypes Autosomal recessive spinocerebellar ataxia 4, 608877 for gene: VPS13D
Source NHS GMS was added to VPS13D.
Source Wessex and West Midlands GLH was added to VPS13D.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
gene: VPS13D was added gene: VPS13D was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to spastic ataxia