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| COVID-19 research v1.118 | PIK3CD | Arina Puzriakova Phenotypes for gene: PIK3CD were changed from Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Unclassified antibody deficiency; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies; sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; Immunodeficiency 14,615513 to Immunodeficiency 14A, autosomal dominant, OMIM:615513; Immunodeficiency 14B, autosomal recessive, OMIM:619281; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Predominantly Antibody Deficiencies; Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.103 | PIK3CD | Ivone Leong reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: ; Publications: 32086639, 32048120; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.102 | PIK3CD |
Ivone Leong Source IUIS Classification December 2026 was added to PIK3CD. Mode of inheritance for gene PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| COVID-19 research v0.36 | PIK3CD |
Ellen McDonagh gene: PIK3CD was added gene: PIK3CD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301 Phenotypes for gene: PIK3CD were set to Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Unclassified antibody deficiency; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies; sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; Immunodeficiency 14,615513 Mode of pathogenicity for gene: PIK3CD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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