Inherited bleeding 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
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Hermansky-Pudlak syndrome
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- Complete
- 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
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)AP3B1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AP3B1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AP3B1 was created by ellenmcdonagh