Pulmonary fibrosis familial
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
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hermansky-Pudlak syndrome 2, OMIM:608233
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- None
- 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
- 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
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: AP3B1 was added gene: AP3B1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B1 were set to 10024875; 22009278; 20301464 Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, OMIM:608233