Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CARD10Comment on list classification: New gene added by Zornitza Stark. Rating Red as at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915)Created: 4 Jan 2022, 2:38 p.m. | Last Modified: 4 Jan 2022, 2:39 p.m.
Panel Version: 2.500
A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: LiteratureCreated: 4 Dec 2021, 2:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 89 and autoimmunity, MIM# 619632
Publications
Gene: card10 has been classified as Red List (Low Evidence).
Phenotypes for gene: CARD10 were changed from Immunodeficiency 89 and autoimmunity, MIM# 619632 to Immunodeficiency 89 and autoimmunity, OMIM:619632
gene: CARD10 was added gene: CARD10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARD10 were set to 32238915 Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632 Review for gene: CARD10 was set to RED