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COVID-19 research

Gene: ARPC1B

Green List (high evidence)

ARPC1B (actin related protein 2/3 complex subunit 1B)
EnsemblGeneIds (GRCh38): ENSG00000130429
EnsemblGeneIds (GRCh37): ENSG00000130429
OMIM: 604223, Gene2Phenotype
ARPC1B is in 6 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

3 kindreds identified in 2 publications.
Created: 19 Jun 2018, 5:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with thrombocytopenia

Publications

Louise Daugherty (Genomics England Curator)

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): ARPC1B .PanelApp HGNC gene symbol check: ARPC1B . IUIS Disease: ARPC1B deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal Numbers, .IUIS Other affected cells: N/A. IUIS Associated features: Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immunodeficiency with Congenital Thrombocytopenia
Created: 2 Jul 2018, 10:35 a.m.
Comment on publications: added third case PMID: 27965109
Created: 20 Jun 2018, 2:50 p.m.
Comment on phenotypes: added phenotype suggested by external review
Created: 20 Jun 2018, 2:47 p.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 2:46 p.m.
Comment on publications: added publication suggested from external review
Created: 20 Jun 2018, 2:45 p.m.
After internal clinical review it was decided to leave as amber, whilst awaiting more information on this gene and potential disease association.
Created: 11 May 2018, 3:32 p.m.
To be discussed with clinical team as to whether this is further demoted to Red. Two unrelated cases described but this is inflammatory predisposition not directly causative of it
Created: 11 May 2018, 11:45 a.m.
from OMIM: PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017)
Created: 11 May 2018, 11:40 a.m.
Comment on phenotypes: inflammatory predisposition phenotype added.
Created: 11 May 2018, 11:39 a.m.
Comment on publications: added publication to support association. PMID:28368018 Kahr et al. (2017) reported 3 patients from 2 unrelated families with a multisystem disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases.
Created: 11 May 2018, 11:37 a.m.
Comment on phenotypes: added phenotype from OMIM
Created: 11 May 2018, 11:33 a.m.
Comment on mode of inheritance: added MOI from OMIM
Created: 11 May 2018, 11:33 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ARPC1B, GRID_Gene_Symbol: ARPC1B, GRID_Transcript_ENS_Community submitted: ENST00000252725, GRID_Transcript_RefSeq: NM_005720, GRID_Transcript_ENS_used_on_Production: ENST00000252725
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • inflammatory predisposition
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
  • Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching
  • Immunodeficiency with thrombocytopenia
  • Combined immunodeficiencies with associated or syndromic features
  • Thrombocytopenia & Immune Deficiency
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ARPC1B was added gene: ARPC1B was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC1B were set to 29127144; 28368018; 27965109 Phenotypes for gene: ARPC1B were set to inflammatory predisposition; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Immunodeficiency with thrombocytopenia; Combined immunodeficiencies with associated or syndromic features; Thrombocytopenia & Immune Deficiency