Transplant Co-Morbidity Superpanel
Gene: AP3B1
AP3B1 (adaptor related protein complex 3 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hermansky-Pudlak syndrome 2, MIM# 608233
- MONDO:0011997
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Disorders of immune dysregulation
- Ocular and Oculocutaneous Albinism
- Fetal anomalies
- Additional findings_Paediatric
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- BabyScreen+ newborn screening
- Congenital nystagmus
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AP3B1 was added gene: AP3B1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336 Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997