Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: EZRComment on list classification: New gene added by Boaz Palterer. Not yet associated with any phenotype in OMIM or G2P. Rating Red as only a single case has been reported to date (PMID: 37301410). Patient had B-cell deficiency with progressive hypogammaglobulinemia. Additional cases required prior to promoting this gene.
A homozygous variant in EZR was also found in two siblings with a profound intellectual disability (PMID: 25504542) but no immunological manifestations were reported.Created: 11 Mar 2024, 5:03 p.m. | Last Modified: 11 Mar 2024, 5:03 p.m.
Panel Version: 4.195
One kindred with 1 affected subject (homozygous EZR p.A129T), disease segregates with the variant. Extensive functional analysis.
Sources: LiteratureCreated: 23 Jul 2023, 6:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypogammaglobulinemia; immunodeficiency
Publications
Gene: ezr has been classified as Red List (Low Evidence).
gene: EZR was added gene: EZR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: EZR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EZR were set to 37301410 Phenotypes for gene: EZR were set to hypogammaglobulinemia; immunodeficiency Penetrance for gene: EZR were set to unknown Review for gene: EZR was set to RED