Familial pulmonary fibrosis
Gene: AP3B1EnsemblGeneIds (GRCh38): ENSG00000132842
EnsemblGeneIds (GRCh37): ENSG00000132842
OMIM: 603401, Gene2Phenotype
AP3B1 is in 13 panels
2 reviews
Philip Molyneaux (Imperial College)
Associated with HSP1 and pulmonary fibrosisCreated: 26 Apr 2017, 9:17 a.m.
Alice Gardham (Genomics England)
The pulmonary fibrosis has been described largely in individuals with HPS-1 from northwestern Puerto Rico [Brantly et al 2000, Avila et al 2002], but also occurs in other individuals with HPS-1 [Brantly et al 2000, Hermos et al 2002] or HPS-4 [Anderson et al 2003, Bachli et al 2004] or HPS-2 [Gochuico et al 2012].Created: 8 Feb 2017, 7:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
- Hermansky-Pudlak syndrome 2, 608233
- Pulmonary Disease
- Pulmonary fibrosis
- 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
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: AP3B1 were set to 10024875, 20301464
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for AP3B1 were set to Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Hermansky-Pudlak syndrome 2, 608233; Pulmonary Disease;Pulmonary fibrosis
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for AP3B1 were set to 10024875, 20301464
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for AP3B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)AP3B1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)AP3B1 was created by ellenmcdonagh