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Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 ARPC5 Boaz Palterer gene: ARPC5 was added
gene: ARPC5 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC5 were set to immunodeficiency; autoimmunity; inflammation; dysmorphisms; impaired wound healing; scoliosis; pneumatoceles; anemia
Penetrance for gene: ARPC5 were set to unknown
Review for gene: ARPC5 was set to GREEN
Added comment: Nunes-Santos et al. described 2 unrelated patients from 2 kindreds woith germline biallelic null mutations in ARPC5 presenting with a complex actinopathy phenotype of increased susceptibility to infections, autoimmunity, inflammation, and dysmorphisms.
There is strong biological rationale: ARPC5 is part of the Arp2/3 complex, related to WAS in Wiskott-Aldrich syndrome and ARPC1B deficiency. Strong functional ex vivo and in vitro data is presented.
( https://doi.org/10.1038/s41467-023-39272-0 )
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 ARPC1B Arina Puzriakova Publications for gene: ARPC1B were set to 28368018; 29127144; 27965109
Primary immunodeficiency or monogenic inflammatory bowel disease v2.410 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Thrombocytopenia & Immune Deficiency; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; inflammatory predisposition; Immunodeficiency with thrombocytopenia; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Combined immunodeficiencies with associated or syndromic features to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 ARPC1B Nikolaos Marinakis reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33679784; Phenotypes: combined immunodeficiency, infections, allergy, inflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Louise Daugherty commented on gene: ARPC1B: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Louise Daugherty commented on gene: ARPC1B: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Kimberly Gilmour reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Tracy Briggs reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ARPC1B Louise Daugherty Source NHS GMS was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ARPC1B Louise Daugherty Source North West GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ARPC1B Louise Daugherty Source London North GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty commented on gene: ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty marked gene: ARPC1B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty edited their review of gene: ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty classified ARPC1B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Sophie Hambleton reviewed gene: ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty edited their review of ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty edited their review of ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty edited their review of ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty commented on ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty reviewed ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty Added gene to panel