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  3. CARD11
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: CARD11

Green List (high evidence)
CARD11 (caspase recruitment domain family member 11)
EnsemblGeneIds (GRCh38): ENSG00000198286
EnsemblGeneIds (GRCh37): ENSG00000198286
OMIM: 607210, Gene2Phenotype
CARD11 is in 4 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM#617638
  • Immunodeficiency 11A, autosomal recessive, MIM#615206
OMIM
607210
Clinvar variants
Variants in CARD11
Penetrance
None
Publications
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

Rebecca Foulger (Genomics England curator)

gene: CARD11 was added gene: CARD11 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: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23561803; 12818158; 28628108; 23374270 Phenotypes for gene: CARD11 were set to Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM#617638; Immunodeficiency 11A, autosomal recessive, MIM#615206