| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Predominantly Antibody Deficiency v0.112 | PIK3CG | Zornitza Stark Marked gene: PIK3CG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.112 | PIK3CG | Zornitza Stark Gene: pik3cg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.112 | PIK3CG | Zornitza Stark Phenotypes for gene: PIK3CG were changed from Humoral deficiency; Immune dysregulation; HLH to Immunodeficiency 97 with autoinflammation, MIM# 619802; Humoral deficiency; Immune dysregulation; HLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.111 | PIK3CG | Zornitza Stark Classified gene: PIK3CG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.111 | PIK3CG | Zornitza Stark Gene: pik3cg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.110 | PIK3CG | Zornitza Stark reviewed gene: PIK3CG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.110 | PIK3CG |
Peter McNaughton gene: PIK3CG was added gene: PIK3CG was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3CG were set to PMID: 31554793; PMID: 33054089 Phenotypes for gene: PIK3CG were set to Humoral deficiency; Immune dysregulation; HLH Review for gene: PIK3CG was set to AMBER Added comment: Included in IUIS 2022 update predominantly antibody deficiency. PMID: 31554793 female patient presented with haemolytic anaemia, pulmonary impairment and hypogammaglobulinaemia. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||