Vici Syndrome and other autophagy disordersGene: AP3B1
Comment on list classification: Promoted to green after discussion with Emma Baple (South West GMC and Genomics England); as there are multiple different variants that have been reported, it was decided that this gene should be promoted to green.
Created: 31 Jul 2017, 10:34 a.m.
Comment on list classification: Radboud, Emory and Illumina sources are all concurrent on the relationship between mutations in APSB1 and Hermansky-Pudlak syndrome. This is further supported by literature, however there is suggestion in all papers that the syndrome may be caused by founder mutations in the Puerto-Rican and Ashkenazi Jewish population. In one case where the parents of an affected patient were not from the Puerto-Rican or Ashkenazi Jewish population, the parents were consanguineous.
Created: 16 Jun 2017, 1:57 p.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
This gene has been classified as Green List (High Evidence).
Publications for AP3B1 were set to 26927810; 23557002; 19679886; 16537806; 11590544
This gene has been classified as Amber List (Moderate Evidence).
AP3B1 was created by ellenmcdonagh
AP3B1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature