Hereditary ataxia with onset in adulthood
Gene: TSEN2
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 reported in the literature. p.Tyr309Cys variant shared by a number of affected individuals (either homozygous or compound het), of slight concern is that this variant is also in the homozygous state in a single gnomAD donor. Cautiously GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 2B, 612389
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Pontocerebellar hypoplasia 2B, 612389 for gene: TSEN2
Source NHS GMS was added to TSEN2.
Source Wessex and West Midlands GLH was added to TSEN2.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
gene: TSEN2 was added gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)