Activity
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15 actions
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| DDG2P v6.329 | SARS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.328 | SARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SARS | Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SARS2 | Achchuthan Shanmugasundram edited their review of gene: SARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis are strong, biallelic_autosomal and undetermined (PMIDs: 21255763, 24034276, 33751860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03113.; Changed phenotypes to: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845, SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845.0, MONDO:0013458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SARS | Achchuthan Shanmugasundram edited their review of gene: SARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 28236339, 34570399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03234. The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder are limited, monoallelic_autosomal and dominant negative (PMID:36041817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03434.; Changed phenotypes to: OMIM:617709.0, MONDO:0060577, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, Autosomal dominant SARS1-related neurodevelopmental disorder, MONDO:0700092, SARS1-related neurodevelopmental disorder, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | SARS | Achchuthan Shanmugasundram commented on gene: SARS: Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.16 | SARS |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817). |
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| DDG2P v3.14 | SARS | Achchuthan Shanmugasundram Tag de novo was removed from gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | SARS | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | SARS | Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.13 | SARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS2 | Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS | Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SARS2 |
Achchuthan Shanmugasundram gene: SARS2 was added gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 33751860; 24034276 Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Mode of pathogenicity for gene: SARS2 was set to Other |
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| DDG2P v3.11 | SARS |
Achchuthan Shanmugasundram gene: SARS was added gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399; 36041817 Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SARS was set to Other |
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