Activity
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6 actions
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| DDG2P v6.182 | GLUL | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GLUL was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GLUL | Achchuthan Shanmugasundram edited their review of gene: GLUL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GLUL-related congenital systemic glutamine deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 16267323, 21353613). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00560.; Changed phenotypes to: OMIM:610015.0, CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015, GLUL-related congenital systemic glutamine deficiency, MONDO:0012393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLUL | Achchuthan Shanmugasundram reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21353613, 16267323; Phenotypes: CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GLUL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323 |
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| DDG2P v0.2 | GLUL | Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GLUL |
Rebecca Foulger gene: GLUL was added gene: GLUL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613 Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Mode of pathogenicity for gene: GLUL was set to Other - please provide details in the comments |
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