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| Mendelian susceptibility to Immune Disorders v0.44 | SPPL2A | Zornitza Stark Marked gene: SPPL2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.44 | SPPL2A | Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.44 | SPPL2A | Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacterial disease to Immunodeficiency 86, MIM#619549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.43 | SPPL2A | Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.43 | SPPL2A | Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.42 | SPPL2A | Zornitza Stark reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 86, MIM#619549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.41 | SPPL2A |
Peter McNaughton gene: SPPL2A was added gene: SPPL2A was added to Mendelian susceptibility to Immune Disorders. Sources: Literature Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to PMID: 30127434 Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacterial disease Review for gene: SPPL2A was set to GREEN Added comment: 3 patients from 2 unrelated consanguineous families with BCG disease. Functional studies and mouse model replicating phenotype Sources: Literature |
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