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  3. CARD8
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Inflammatory bowel disease

Gene: CARD8

Amber List (moderate evidence)
CARD8 (caspase recruitment domain family member 8)
EnsemblGeneIds (GRCh38): ENSG00000105483
EnsemblGeneIds (GRCh37): ENSG00000105483
OMIM: 609051, Gene2Phenotype
CARD8 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

I don't know

PMID:37724393 reported a second case (7 year-old female) with CARD8 variant and juvenile idiopathic arthritis with associated inflammatory bowel disease. However, I could not access the full publication.
Created: 14 Feb 2024, 3:37 p.m. | Last Modified: 14 Feb 2024, 3:37 p.m.
Panel Version: 0.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079

Publications

Created: 14 Feb 2024, 3:37 p.m.
Last Modified: 14 Feb 2024, 3:37 p.m.
Panel version: 0.112

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals from one family reported segregating a missense variant, dominant negative effect postulated.
Sources: Expert list
Created: 3 Nov 2020, 9:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inflammatory bowel disease-30, MIM#619079

Publications

Created: 3 Nov 2020, 9:10 p.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Inflammatory bowel disease-30, MIM#619079
OMIM
609051
Clinvar variants
Variants in CARD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: card8 has been classified as Amber List (Moderate Evidence).

3 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: card8 has been classified as Red List (Low Evidence).

3 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARD8 was added gene: CARD8 was added to Inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CARD8 were set to 29408806 Phenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079 Review for gene: CARD8 was set to RED