Hereditary ataxia - adult onsetGene: SAR1B
On Sheffield but not Ox panel. Disorder of fat malabsorption associated with failure to thrive in infancy (13/15 mutations). Only 1 report with Marinesco-Sjogren and chylomicron retention.
Created: 27 Apr 2019, 7:39 p.m.
Downgraded Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
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.
Sufficient evidence in lit linking to OMIM phenotype. Cerebellar abnormalities/ataxia have been reported in some affected individuals, seems to be secondary to Vitamin E deficiency (as seen in TTPA)
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chylomicron retention disease, 246700
Source Expert Review Amber was added to SAR1B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GMS was added to SAR1B.
Added phenotypes Chylomicron retention disease, 246700 for gene: SAR1B
Source NHS GMS was added to SAR1B.
Source Wessex and West Midlands GLH was added to SAR1B.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: SAR1B.
gene: SAR1B was added gene: SAR1B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700