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  3. PIK3CD
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: PIK3CD

Green List (high evidence)
PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • Immunodeficiency 14, MIM#615513
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: PIK3CD was added gene: PIK3CD was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CD were set to 30018075; 24165795; 24136356 Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM#615513 Mode of pathogenicity for gene: PIK3CD was set to Other