Hereditary ataxia with onset in adulthood
Gene: SYNE1
On Ox and Sheffield panels. SCAR8Created: 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 patients in lit and our own cohort. Note that AD missense variants have apparently been associated with a form of Emery-Dreifuss muscular dystrophy - not convincing and gene very polymorphic for missense variants in our cohort. Consider reporting LoF/Splice predicting variants only (or missense when in trans with LoF variant)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 8
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8; Autosomal recessive spinocerebellar ataxia type 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
Source London North GMS was added to SYNE1.
Added phenotypes Autosomal recessive spinocerebellar ataxia type 8 for gene: SYNE1
Source NHS GMS was added to SYNE1.
Source Wessex and West Midlands GLH was added to SYNE1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SYNE1 was added gene: SYNE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8