Vici Syndrome and other autophagy disorders
Gene: AP3B1
AP3B1 (adaptor related protein complex 3 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 13 panels
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hermansky-Pudlak syndrome 2
- Tags
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Vascular skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Pulmonary fibrosis familial
- Intellectual disability
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Vici Syndrome and other autophagy disorders
- Inherited bleeding disorders
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
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