Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CARD8
Comment on list classification: As reviewed by Hannah Knight, there are two unrelated cases with heterozygous variants and Inflammatory bowel disease (Crohn disease). Hence, this gene should be rated amber with current evidence.Created: 14 Feb 2024, 3:26 p.m. | Last Modified: 14 Feb 2024, 3:26 p.m.
Panel Version: 4.178
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079
On OMIM as ?association.
PMID: 29408806 (2018) identified a heterozygous missense CARD8 variant (V44I) in a boy, his mother, and his maternal aunt with Crohn disease. Not found in the proband's unaffected father. Functional analysis suggested a dominant-negative effect.
PMID: 37724393 (2023) identified a CARD8 VUS in a paediatric patient with IBD and arthritis. Can't see full paper however
Sources: LiteratureCreated: 12 Feb 2024, 4:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Inflammatory bowel disease (Crohn disease) 30
Publications
Publications for gene: CARD8 were set to 29408806
Gene: card8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CARD8 were changed from ?Inflammatory bowel disease (Crohn disease) 30 to ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079
Publications for gene: CARD8 were set to PMID: 29408806
gene: CARD8 was added gene: CARD8 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CARD8 were set to PMID: 29408806 Phenotypes for gene: CARD8 were set to ?Inflammatory bowel disease (Crohn disease) 30 Review for gene: CARD8 was set to AMBER