| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.152 | NAXE | Bryony Thompson Marked gene: NAXE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.152 | NAXE | Bryony Thompson Gene: naxe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.152 | NAXE | Bryony Thompson Classified gene: NAXE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.152 | NAXE | Bryony Thompson Gene: naxe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.151 | NAXE |
Bryony Thompson gene: NAXE was added gene: NAXE was added to Ataxia. Sources: Literature Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 38419707; 37274027; 36773198; 35637064; 34678889; 34120322; 31745726; 30022751; 27616477 Phenotypes for gene: NAXE were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, MONDO:0020781 Review for gene: NAXE was set to GREEN Added comment: At least 8 families with biallelic loss‑of‑function NAXE variants cause early‑onset progressive encephalopathy with brain edema/leukoencephalopathy and cerebellar ataxia. Functional fibroblast studies show loss of NAXE protein but no rescue experiments; no cis‑regulatory variants are reported. The autosomal recessive inheritance and prominent ataxia make NAXE deficiency (PEBEL1) relevant for the Ataxia gene panel. Sources: Literature |
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