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Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 KARS Ida Ertmanska commented on gene: KARS
Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 KARS Ida Ertmanska Tag new-gene-name tag was added to gene: KARS.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.57 KARS Achchuthan Shanmugasundram Classified gene: KARS as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.57 KARS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer & Luke Stuart, this gene should be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.57 KARS Achchuthan Shanmugasundram Gene: kars has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.56 KARS Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: KARS.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.56 KARS Achchuthan Shanmugasundram Phenotypes for gene: KARS were changed from progressive leukoencephalopathy; peripheral neuropathy; deafness; antibody deficiency; hypogammaglobulinemia to Hypogammaglobulinemia; antibody deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v9.55 KARS Achchuthan Shanmugasundram Publications for gene: KARS were set to 37770806
Primary immunodeficiency or monogenic inflammatory bowel disease v9.54 KARS Luke Stuart reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942428, 37770806; Phenotypes: Hypogammaglobulinemia, antibody deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 KARS Boaz Palterer gene: KARS was added
gene: KARS was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 37770806
Phenotypes for gene: KARS were set to progressive leukoencephalopathy; peripheral neuropathy; deafness; antibody deficiency; hypogammaglobulinemia
Penetrance for gene: KARS were set to unknown
Review for gene: KARS was set to GREEN
Added comment: KARS1 encodes lysyl-tRNA synthetase, an enzyme crucial for protein translation in both the cytoplasm and mitochondria.

Classically associated with a multisystemic condition involving progressive leukoencephalopathy, peripheral neuropathy, and deafness, recent evidence establishes KARS1 defects as an Inborn Error of Immunity (IEI) characterized by B cell metabolic impairment and antibody deficiency.

Saettini et al. identified 1 patient from 1 family carrying pathogenic biallelic KARS1 variants (p.Phe291Val/p.Pro499Leu) presenting with hypogammaglobulinemia, recurrent infections, and impaired B cell activity.
From literature review 17 patients with KARS-related diseases were identified. Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) were frequently reported.
Sources: Literature