| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.65 | GLS | Bryony Thompson Marked gene: GLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.65 | GLS | Bryony Thompson Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.65 | GLS | Bryony Thompson Classified gene: GLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.65 | GLS | Bryony Thompson Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.64 | GLS |
Bryony Thompson gene: GLS was added gene: GLS was added to Ataxia. Sources: Literature Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 38877099; 38260514; 35913761; 30970188 Phenotypes for gene: GLS were set to glutaminase deficiency, MONDO:0600001 Review for gene: GLS was set to GREEN Added comment: PMID 30970188 reports three families and PMID 35913761 reports two families (total five families, six patients) with biallelic GLS loss‑of‑function variants (5'UTR repeat expansions, frameshift, nonsense or missense coding changes) causing early‑onset developmental delay, progressive cerebellar ataxia and markedly elevated plasma glutamine. Functional studies show ~4‑fold reduced GLS mRNA in patient iPSCs, markedly decreased enzyme activity in patient fibroblasts, and zebrafish glsa knockdown recapitulating neurodevelopmental defects, though rescue experiments are lacking. These findings align with the Ataxia panel because progressive ataxia is a core feature of the panel’s scope of neurological disorders with ataxia. Sources: Literature |
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| Ataxia v2.63 | Bryony Thompson Copied STR GLS_GDPAG_GCA from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.63 | GLS_GDPAG_GCA |
Bryony Thompson STR: GLS_GDPAG_GCA was added STR: GLS_GDPAG_GCA was added to Ataxia. Sources: Expert Review Green,Literature paediatric-onset tags were added to STR: GLS_GDPAG_GCA. Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GLS_GDPAG_GCA were set to 30970188 Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 |
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