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Severe Paediatric Disorders v0.12 | SPPL2A | Louise Daugherty reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SPPL2A | Louise Daugherty Publications for gene SPPL2A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SPPL2A | Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPPL2A | Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPPL2A | Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPPL2A | Louise Daugherty Added phenotypes Defects in Intrinsic and Innate Immunity; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria for gene: SPPL2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPPL2A |
Louise Daugherty Mode of inheritance for gene SPPL2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A |
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Severe Paediatric Disorders v0.7 | SPPL2A | Louise Daugherty Source Next Generation Children Project was added to SPPL2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SPPL2A |
Louise Daugherty Source Expert Review Green was added to SPPL2A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SPPL2A |
Louise Daugherty gene: SPPL2A was added gene: SPPL2A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPPL2A was set to |