Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 7 actions
30 Jun 2021	Hereditary ataxia v1.232	SAR1B	Eleanor Williams Classified gene: SAR1B as Amber List (moderate evidence)
30 Jun 2021	Hereditary ataxia v1.232	SAR1B	Eleanor Williams Added comment: 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.
30 Jun 2021	Hereditary ataxia v1.232	SAR1B	Eleanor Williams Gene: sar1b has been classified as Amber List (Moderate Evidence).
20 Mar 2017	Hereditary ataxia	SAR1B	Sarah Leigh commented on SAR1B
20 Mar 2017	Hereditary ataxia	SAR1B	Sarah Leigh classified SAR1B as green
20 Mar 2017	Hereditary ataxia	SAR1B	Sarah Leigh added SAR1B to panel
20 Mar 2017	Hereditary ataxia	SAR1B	Sarah Leigh reviewed SAR1B