Vici Syndrome and other autophagy disordersGene: VPS13B
Comment on list classification: After review of this gene in the four sources and in a literature search, it is apparent that variants in VPS13B (also known as COH1) are linked to Cohen syndrome. Some founder mutations are seen in different populations, including a suggested "Baloch" variation in the Pakistani population (PMID 26104215), however other mutations in other populations thought to be unrelated to founder effects are also seen.
Created: 18 Jul 2017, 1:37 p.m.
Confirmed DD gene for Cohen syndrome.
Created: 29 Apr 2016, 7:49 a.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for VPS13B were set to 26927810; 20656880; 19190672; 18655112; 16648375; 26104215
This gene has been classified as Green List (High Evidence).
VPS13B was created by ellenmcdonagh
VPS13B was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature