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| COVID-19 research v1.129 | SKIV2L | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.107 | SLC29A3 | Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders; Histiocytosis-lymphadenopathy plus syndrome 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.332 | CC2D2A | Sarah Leigh edited their review of gene: CC2D2A: Added comment: Using Collaborative Cross mouse genetic reference population, PMID 32348764 studied the genetic regulation of variation in antibody response to influenza A virus (IAV) infection. This enabled the identification of 23 quantitative trait loci (QTL) associated with variation in specific antibody isotypes across time points; this allowed a subset to be found that broadly affect the antibody response to IAV as well as other viruses. This gene is the equivalent human for the mouse gene that was classified as a candidate from one of the QTLs, based on the predicted variant consequences and haplotype-specific expression patterns (PMID 32348764 table 2).; Changed mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.321 | SLC2A1 | Ivone Leong Classified gene: SLC2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.321 | SLC2A1 | Ivone Leong Gene: slc2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.320 | SLC2A1 |
Ivone Leong gene: SLC2A1 was added gene: SLC2A1 was added to COVID-19 research. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to Unknown Publications for gene: SLC2A1 were set to 15767416; 22308487 Review for gene: SLC2A1 was set to AMBER Added comment: GLUT1 is a receptor for HTLV and suggested that perturbations in glucose metabolism resulting from interactions of HTLV envelope glycoproteins with GLUT1 are likely to contribute to HTLV-associated disorders (PMID: 15767416). PMID: 22308487 shows that IL-7 induced upregulation of Glut1 changes glucos uptake and causes T lymphocyptes susceptible to HIV-1 infection. Sources: Expert list |
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| COVID-19 research v0.312 | SLC20A2 |
Ivone Leong gene: SLC20A2 was added gene: SLC20A2 was added to COVID-19 research. Sources: Expert list Mode of inheritance for gene: SLC20A2 was set to Unknown Review for gene: SLC20A2 was set to RED Added comment: GLVR2 is a receptor for amphotropic virus. Non-human viruses listed. Sources: Expert list |
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| COVID-19 research v0.203 | XRCC2 | Sophie Hambleton reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.189 | CC2D2A | Sarah Leigh reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: ; Publications: 32348764; Phenotypes: Influenza A Virus-Specific Antibody Responses; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.187 | CC2D2A |
Sarah Leigh gene: CC2D2A was added gene: CC2D2A was added to Viral susceptibility. Sources: Literature Mode of inheritance for gene: CC2D2A was set to |
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| COVID-19 research v0.103 | XRCC2 | Ivone Leong reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32086639, 32048120; Phenotypes: ?Fanconi anemia, complementation group U, 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.102 | XRCC2 |
Ivone Leong gene: XRCC2 was added gene: XRCC2 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC2 were set to 32086639; 32048120 Phenotypes for gene: XRCC2 were set to ?Fanconi anemia, complementation group U, 617247 |
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| COVID-19 research v0.40 | RAC2 |
Ellen McDonagh Source Expert Review Green was added to RAC2. Added phenotypes Reticular dysgenesis; poststreptococcal glomerulonephritis; Congenital defects of phagocyte number or function; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Recurrent sinopulmonary infections, selective IgA defiency; urticaria; T-B- SCID; Poor wound healing, leukocytosis for gene: RAC2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | ERCC2 |
Ellen McDonagh gene: ERCC2 was added gene: ERCC2 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,Other,NHS GMS,London North GLH,Expert Review Red Mode of inheritance for gene: ERCC2 was set to Unknown Publications for gene: ERCC2 were set to 11737070 Phenotypes for gene: ERCC2 were set to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia |
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| COVID-19 research v0.36 | RAC2 |
Ellen McDonagh gene: RAC2 was added gene: RAC2 was added to Viral susceptibility. Sources: Combined B and T cell defect v1.12,ESID Registry 20171117,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,SCID v1.6,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: RAC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859 Phenotypes for gene: RAC2 were set to Reticular dysgenesis; poststreptococcal glomerulonephritis; Congenital defects of phagocyte number or function; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Recurrent sinopulmonary infections, selective IgA defiency; urticaria; T-B- SCID; Poor wound healing, leukocytosis |
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| COVID-19 research v0.36 | SLC29A3 |
Ellen McDonagh gene: SLC29A3 was added gene: SLC29A3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22875837; 16650224; 16155931; 20140240; 18947330; 17461801; 19336477; 16118898; 21178579; 19175903; 9545394; 21888995; 22238637; 23530176; 22653152; 18940313; 20619369 Phenotypes for gene: SLC29A3 were set to Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders; Histiocytosis-lymphadenopathy plus syndrome 602782 |
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| COVID-19 research v0.36 | DNAJC21 |
Ellen McDonagh gene: DNAJC21 was added gene: DNAJC21 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 27346687; 29700810; 28062395 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052; Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure; Shwachman-Diamond syndrome-like; Congenital defects of phagocyte number or function |
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| COVID-19 research v0.36 | C2 |
Ellen McDonagh gene: C2 was added gene: C2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2 were set to 1577763; 15643297; 11079100; 8621452; 7901282 Phenotypes for gene: C2 were set to Complement Component C2 Deficiency; Lupus; Complement Deficiencies; SLE, infections with encapsulated organisms, atherosclerosis; C2 deficiency, 217000; Immunodeficiency due to C1, C4, or C2 component complement deficiency |
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