Inflammatory bowel disease
Gene: CARD8
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
Two individuals from one family reported segregating a missense variant, dominant negative effect postulated.
Sources: Expert listCreated: 3 Nov 2020, 9:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inflammatory bowel disease-30, MIM#619079
Publications
Gene: card8 has been classified as Amber List (Moderate Evidence).
Gene: card8 has been classified as Red List (Low Evidence).
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