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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
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)
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