Activity
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12 actions
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| DDG2P v6.255 | MRPS22 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS22 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.254 | MRPS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MRPS22 | Achchuthan Shanmugasundram edited their review of gene: MRPS22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS22-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17873122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00122.; Changed phenotypes to: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719, MRPS22-related combined oxidative phosphorylation deficiency, OMIM:611719.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MRPS2 | Achchuthan Shanmugasundram edited their review of gene: MRPS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies are strong, biallelic_autosomal and undetermined (PMID:29576219). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02599.; Changed phenotypes to: MONDO:0054781, Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies, OMIM:617950.0, MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS22 | Achchuthan Shanmugasundram reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17873122; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS2 | Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MRPS22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS22. Mode of pathogenicity for gene MRPS22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRPS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS2. Mode of pathogenicity for gene MRPS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | MRPS2 | Rebecca Foulger reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | MRPS2 |
Rebecca Foulger gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments |
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| DDG2P v0.2 | MRPS22 | Rebecca Foulger reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MRPS22 |
Rebecca Foulger gene: MRPS22 was added gene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to 17873122 Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 Mode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments |
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