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Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from Immune dysregulation to Immunodeficiency 36 MIM#616005
Disorders of immune dysregulation v1.9 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Green List (high evidence)
Disorders of immune dysregulation v1.9 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v1.6 PIK3R1 Peter McNaughton gene: PIK3R1 was added
gene: PIK3R1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to PMID: 37600808
Phenotypes for gene: PIK3R1 were set to Immune dysregulation
Review for gene: PIK3R1 was set to GREEN
Added comment: Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation.
Sources: Literature