CARD9

caspase recruitment domain family member 9
OMIM: 607212, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CARD9 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Predisposition to invasive fungal disease due to CARD9 deficiency
  • 212050
  • CARD9 deficiency
  • Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections
  • Candidiasis, familial, 2
  • Defects in Intrinsic and Innate Immunity
Green CARD9 in Rare genetic inflammatory skin disorders


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deep dermatophytosis, MONDO:0018335
Green CARD9 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Candidiasis, familial, 2
  • 212050
  • CARD9 deficiency
  • Predisposition to invasive fungal disease due to CARD9 deficiency
  • Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections
  • Defects in Intrinsic and Innate Immunity
Green CARD9 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Candidiasis, familial, 2, autosomal recessive, 212050