Hereditary ataxia

Gene: SAR1B

Amber List (moderate evidence)

SAR1B (secretion associated Ras related GTPase 1B)
EnsemblGeneIds (GRCh38): ENSG00000152700
EnsemblGeneIds (GRCh37): ENSG00000152700
OMIM: 607690, Gene2Phenotype
SAR1B is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Chylomicron retention disease 246700

History Filter Activity

30 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sar1b has been classified as Amber List (Moderate Evidence).

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SAR1B was added to Hereditary ataxiapanel. Sources: Expert Review

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SAR1B was created by sleigh