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Prepair 1000+

Gene: CARD9

Red List (low evidence)

CARD9 (caspase recruitment domain family member 9)
EnsemblGeneIds (GRCh38): ENSG00000187796
EnsemblGeneIds (GRCh37): ENSG00000187796
OMIM: 607212, Gene2Phenotype
CARD9 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variable onset and severity, not suitable for reproductive carrier screening. R/V ZS/AY/SL/JM/CL/AA.
Created: 11 Aug 2022, 6:57 a.m. | Last Modified: 11 Aug 2022, 6:57 a.m.
Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene disease association. CARD9 deficiency underlies life-threatening, invasive fungal infections in
otherwise healthy individuals normally resistant to other infectious agents.
Created: 20 Jul 2022, 12:04 a.m. | Last Modified: 20 Jul 2022, 12:04 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 103, susceptibility to fungal infection (MIM#212050)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050
OMIM
607212
Clinvar variants
Variants in CARD9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: card9 has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CARD9 were changed from Candidiasis, familial, 2, autosomal recessive, 212050 (3) to Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050

11 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CARD9 were set to

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: card9 has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: CARD9.

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: CARD9.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARD9 was added gene: CARD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)