COVID-19 research

Gene: AP3B1

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): AP3B1 .PanelApp HGNC gene symbol check: AP3B1 . IUIS Disease: Hermansky-Pudlak syndrome, type 2 . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: FHL Syndromes with Hypopigmentation

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Changed from Amber to Green more than 3 unrelated cases described in the literature with HSP2 of which neutropenia is a feature

Created: 11 May 2018, 10:59 a.m.

Comment on publications: Neutropenia and/or immune defects have been associated with AP3 deficient HPS, including individuals with pathogenic variants in AP3B1 (and AP3D1) PMID:16507770,28585318,26744459

Created: 11 May 2018, 10:49 a.m.

from orphanet: HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. Women may present with medically significant menstrual bleeding. In addition, HPS-2 patients present with recurrent infections due to neutropenia and impaired cytotoxic activity.

Created: 11 May 2018, 10:30 a.m.

Comment on phenotypes: expanded the phenotype to include PID association

Created: 11 May 2018, 10:25 a.m.

Comment on publications: added publications to support PID phenotype

Created: 11 May 2018, 10:24 a.m.

Comment on phenotypes: added OMIM MIMid

Created: 11 May 2018, 10:19 a.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 20 Apr 2018, 12:25 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: AP3B1, PanelApp HGNC gene symbol check: AP3B1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / Hermansky-Pudlak syndrome

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: AP3B1, GRID_Gene_Symbol: AP3B1, GRID_Transcript_ENS_Community submitted: ENST00000519295, GRID_Transcript_RefSeq: NM_001271769, GRID_Transcript_ENS_used_on_Production: ENST00000519295

Created: 17 Apr 2018, 12:12 p.m.