Vici Syndrome and other autophagy disorders

Gene: AP3B1

Green List (high evidence)

AP3B1 (adaptor related protein complex 3 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Olivia Niblock (Genomics England Curator)

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.

History Filter Activity

31 Jul 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.

31 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

16 Jun 2017, Gel status: 2

Set publications

Olivia Niblock (Genomics England Curator)

Publications for AP3B1 were set to 26927810; 23557002; 19679886; 16537806; 11590544

16 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AP3B1 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AP3B1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature