| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.52 | GLS | Zornitza Stark Marked gene: GLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.52 | GLS | Zornitza Stark Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.52 | GLS | Zornitza Stark Classified gene: GLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.52 | GLS | Zornitza Stark Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GLS |
Sangavi Sivagnanasundram gene: GLS was added gene: GLS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247 Phenotypes for gene: GLS were set to glutaminase deficiency MONDO:0600001 Review for gene: GLS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 09/07/2021 - https://search.clinicalgenome.org/CCID:004965 6 probands have been reported with glutaminase deficiency. Nonsense, framshift and missense variants have been reported. 5’UTR repeat expansion (680-1500 repeats; normal range 8-16 repeats) has also been reported. Mouse model was also conducted that recapitulates the human phenotype (PMID: 16641247). Sources: ClinGen |
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