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| Defects of intrinsic and innate immunity v1.39 | SPPL2A | Lucy Spencer Phenotypes for gene: SPPL2A were changed from Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, mycobacteriosis MIM#619549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.38 | SPPL2A | Lucy Spencer Publications for gene: SPPL2A were set to 30127434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.37 | SPPL2A | Lucy Spencer Classified gene: SPPL2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.37 | SPPL2A | Lucy Spencer Gene: sppl2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.37 | Lucy Spencer Added reviews for gene SPPL2A from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.81 | SPPL2A | Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.80 | SPPL2A | Zornitza Stark edited their review of gene: SPPL2A: Changed phenotypes: Immunodeficiency 86, MIM#619549, Susceptibility to mycobacteria and Salmonella | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.10 | SPPL2A | Zornitza Stark Marked gene: SPPL2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.10 | SPPL2A | Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.10 | SPPL2A | Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.10 | SPPL2A | Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.9 | SPPL2A |
Zornitza Stark gene: SPPL2A was added gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPPL2A were set to 30127434 Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella Review for gene: SPPL2A was set to AMBER Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data. Sources: Expert list |
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