Cytopenia - NOT Fanconi anaemia
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
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Hermansky-Pudlak syndrome 2 (type 2 is associated with both thrombocytopenia and neutropenia as well as platelet-dense granule deficiency, impaired function of T cells, NK cells, hypopigmentation. Appears to be well established as a cause of neutropenia; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: Associated with thrombocytopenia and neutropenia - seem to be a major part of the phenotype so may present to haematology first.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert review Amber
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Hermansky-Pudlak syndrome 2, 608233
- OMIM
- 603401
- Clinvar variants
- Variants in AP3B1
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Vascular skin disorders
- Pulmonary fibrosis familial
- Intellectual disability
- Bleeding and platelet disorders
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- COVID-19 research
- Vici Syndrome and other autophagy disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
History Filter Activity
4 Nov 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to AP3B1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Amber was added to AP3B1.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hermansky-Pudlak syndrome 2, 608233 for gene: AP3B1
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: AP3B1 was added gene: AP3B1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: AP3B1 was set to