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  3. CD247
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: CD247

Red List (low evidence)
CD247 (CD247 molecule)
EnsemblGeneIds (GRCh38): ENSG00000198821
EnsemblGeneIds (GRCh37): ENSG00000198821
OMIM: 186780, Gene2Phenotype
CD247 is in 2 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Normal NK cells
  • Absent T cells
  • Normal B cells
  • Immunodeficiency 25, MIM#610163
OMIM
186780
Clinvar variants
Variants in CD247
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CD247 was added gene: CD247 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Red,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD247 were set to 16672702 Phenotypes for gene: CD247 were set to Normal NK cells; Absent T cells; Normal B cells; Immunodeficiency 25, MIM#610163