Hereditary ataxia - adult onsetGene: SIL1
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 reports and variants in the literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Marinesco-Sjogren syndrome, 248800
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Source NHS GMS was added to SIL1.
Source Wessex and West Midlands GLH was added to SIL1.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
gene: SIL1 was added gene: SIL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal