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Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from APDS to Immunodeficiency 36, MIM# 616005
Autoimmune Lymphoproliferative Syndrome v1.7 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.7 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.0 PIK3R1 Peter McNaughton gene: PIK3R1 was added
gene: PIK3R1 was added to Autoimmune Lymphoproliferative Syndrome. 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: 39644063
Phenotypes for gene: PIK3R1 were set to APDS
Review for gene: PIK3R1 was set to GREEN
Added comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation.
Sources: Literature