COVID-19 researchGene: MBL2
Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found 2 variants with potentially damaging effect, p.Arg52Cys and p.Gly54Glu in MBL2 gene, having allelic frequency of 8% and 14%, respectively.
Created: 22 May 2020, 10:31 a.m. | Last Modified: 22 May 2020, 10:31 a.m.
Panel Version: 0.302
PMID: 25818534 reports that the CCL2 G-2518A and MBL codon 54 variants have a significantly cumulative effect on increased risk of SARS-CoV infection.
Created: 24 Mar 2020, 11:53 a.m. | Last Modified: 24 Mar 2020, 11:53 a.m.
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PMID: 16170752 report an association between polymorphisms in the mannose-binding lectin gene and evere acute respiratory syndrome coronavirus (SARS-CoV) infection. The codon 54 variant was associated with reduced expression of functional mannose-binding lectin. The gene symbol MBL was used in the publication which is no longer a HGNC-approved symbol, linking to the gene accession code provided the gene is encoded on chromosome 10 and seems to correlate with the gene symbol MBL2 which has the previous symbol MBL (https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6922).
Created: 24 Mar 2020, 11:47 a.m. | Last Modified: 24 Mar 2020, 11:47 a.m.
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Does not cause Mendelian disease but genotype influences infection risk and is widely screened for at present
Created: 23 Oct 2019, 7:10 a.m. | Last Modified: 23 Oct 2019, 7:10 a.m.
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Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present
Created: 26 Sep 2019, 3:57 p.m. | Last Modified: 26 Sep 2019, 3:57 p.m.
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relevant to 5-10% of the population and that there are three specific missense variants described. Rated Amber.
Created: 26 Sep 2019, 3:34 p.m. | Last Modified: 26 Sep 2019, 3:34 p.m.
Panel Version: 1.127
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968
Created: 26 Sep 2019, 10:21 a.m. | Last Modified: 26 Sep 2019, 10:21 a.m.
Panel Version: 1.120
Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL)
Created: 26 Sep 2019, 8:43 a.m. | Last Modified: 26 Sep 2019, 8:43 a.m.
Panel Version: 1.120
Mode of inheritance for gene MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mannose-binding lectin deficiency (MBL); Chronic infections, due to MBL deficiency; Mannose-Binding Protein Deficiency, 614372 for gene: MBL2 Publications for gene MBL2 were updated from 16170752; 19405982; 25818534; 16185324; 15838797 to 16185324; 28347655; 10888598; 19405982; 1458688; 16170752; 15838797; 7707811; 25818534
Phenotypes for gene: MBL2 were changed from Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; susceptibility to SARS-CoV
gene: MBL2 was added gene: MBL2 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: MBL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MBL2 were set to 16170752; 19405982; 25818534; 16185324; 15838797 Phenotypes for gene: MBL2 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection