Activity
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11 actions
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| Aminoacidopathy v1.132 | GLS | Zornitza Stark Publications for gene: GLS were set to 29468182; 30575854; 30970188; 16641247; 30239721, 37151363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.131 | GLS | Zornitza Stark Phenotypes for gene: GLS were changed from glutaminase deficiency MONDO:0600001 to Glutaminase deficiency MONDO:0600001; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.130 | GLS | Zornitza Stark Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.129 | GLS | Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | GLS | Zornitza Stark reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaminase deficiency MONDO:0600001, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | GLS |
Sangavi Sivagnanasundram edited their review of gene: GLS: Added comment: Classified as Moderate by ClinGen Aminoacidopathy GCEP on 26/07/2024 - https://search.clinicalgenome.org/CCID:004966 Two unrelated probands have been reported with an increased glutamate production level. Two missense variants have been reported (Ser482Cys and His461Leu - both absent from gnomAD v4.1). A zebrafish model partially recapitulated the disease.; Changed rating: AMBER; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30239721, 37151363; Changed phenotypes: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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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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