This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Vascular skin disorders
- Pulmonary fibrosis familial
- Bleeding and platelet disorders
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- COVID-19 research
- Fetal anomalies
- Vici Syndrome and other autophagy disorders
- Inherited bleeding disorders
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: AP3B1 was added gene: AP3B1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP3B1 was set to Unknown