Albinism or congenital nystagmus
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
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Comments from HGMDpro: STRONG EVIDENCE: Numerous LOF variants present with Hermansky-Pudlak syndrome as the reported phenotype.Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233 AR
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hermansky-Pudlak syndrome 2 608233 AR
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- None
- 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
20 Mar 2019, Gel status: 3
Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1 Rating Changed from Green List (high evidence) to Green List (high evidence)
13 Feb 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ap3b1 has been classified as Green List (High Evidence).
13 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AP3B1 was added gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR