| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Predominantly Antibody Deficiency v0.145 | KARS | Bryony Thompson Marked gene: KARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.145 | KARS | Bryony Thompson Gene: kars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.145 | KARS | Bryony Thompson Classified gene: KARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.145 | KARS | Bryony Thompson Gene: kars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.144 | KARS |
Bryony Thompson gene: KARS was added gene: KARS was added to Predominantly Antibody Deficiency. Sources: Expert list 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 leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893 Review for gene: KARS was set to GREEN gene: KARS was marked as current diagnostic Added comment: 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]) have been reported in cases with KARS1-related disease. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||