Hereditary ataxia with onset in adulthood
Gene: GBA2
On Oxford and Sheffield panels. 22 DM in HGMD consisting of spastic and cerebellar ataxia. Cerebellar atrophy is an HPO associated term associated with GBA2.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.
Lots of cases in the literature, positives in our own cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 46, 614409
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to GBA2.
Added phenotypes Spastic paraplegia 46, 614409 for gene: GBA2
Source NHS GMS was added to GBA2.
Source Wessex and West Midlands GLH was added to GBA2.
Checked panel against panel constituents. Ready to promote to version 1.
Publications for gene: GBA2 were set to
Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
gene: GBA2 was added gene: GBA2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal