Hereditary ataxiaGene: SAR1B
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
This gene has been classified as Green List (High Evidence).
SAR1B was added to Hereditary ataxiapanel. Sources: Expert Review
SAR1B was created by sleigh