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| Mendeliome v2.0 | IL12RB2 | Gene migrated from ENSG00000081985 to ENSG00000081985 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4920 | IL12RB2 | Zornitza Stark Publications for gene: IL12RB2 were set to 30578351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4919 | IL12RB2 | Zornitza Stark Mode of inheritance for gene: IL12RB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4918 | IL12RB2 |
Zornitza Stark edited their review of gene: IL12RB2: Added comment: PMID 31158284 reports single individual with high impact variant and Mendelian Susceptibility to Mycobacterial Disease (MSMD). PMID 42012883 reports two individuals with disseminated coccidioidomycosis and missense variants but one of these has an implausibly high population frequency.; Changed publications: 30578351, 31158284, 42012883; Changed phenotypes: Inborn error of immunity, MONDO:0003778, IL12RB2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Mendeliome v1.3781 | IL12RB2 | Lucy Spencer Phenotypes for gene: IL12RB2 were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease MONDO:0021094, IL12RB1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1959 | IL12RB2 | Zornitza Stark Marked gene: IL12RB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1959 | IL12RB2 | Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1959 | IL12RB2 |
Zornitza Stark gene: IL12RB2 was added gene: IL12RB2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12RB2 were set to 30578351 Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL12RB2 was set to RED Added comment: Single individual reported, some functional data. Sources: Expert list |
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