Hereditary ataxiaGene: SAR1B
Comment on list classification: Changing the rating of this gene from Green to amber. This is a disorder of fat malabsorption. Only 1 report of a case (PMID: 10665502) reported with a Marinesco-Sjogren syndrome diagnosis in which the siblings showed severe cerebellar ataxia with truncal and limb ataxia. See reviews on GMS Hereditary ataxia - adult onset and Ataxia and cerebellar anomalies - narrow panel.
Created: 30 Jun 2021, 4:52 p.m. | Last Modified: 30 Jun 2021, 4:52 p.m.
Panel Version: 1.232
Comment on "Treatable" tag: Individuals typically present in infancy with with steatorrhea and failure to thrive, and dietary measures (maintenance of adequate caloric intake on a low-long chain fat diet consisting of polyunsaturated fatty acids, with supplementation of lipid soluble vitamins, including large amounts of vitamin E, and essential fatty acids) can be beneficial
Created: 20 Mar 2017, 10:52 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Chylomicron retention disease 246700
Gene: sar1b has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
SAR1B was added to Hereditary ataxiapanel. Sources: Expert Review
SAR1B was created by sleigh