Hereditary ataxia - adult onsetGene: TTBK2
On Sheffield panel. 5 DM in HGMD.
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.
Multiple families now in lit and positives in our cohort - looks like haploinsufficiency is predominant mechanism
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 11, 604432
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to TTBK2.
Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2
Source NHS GMS was added to TTBK2.
Source Wessex and West Midlands GLH was added to TTBK2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: TTBK2 was added gene: TTBK2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11