Activity
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10 actions
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| DDG2P v6.57 | ASCC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASCC3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ASCC3 | Achchuthan Shanmugasundram edited their review of gene: ASCC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASCC3-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00133.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ASCC3-related intellectual developmental disorder, OMIM:620700.0, MONDO:0958204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.86 | ASCC3 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.86 | ASCC3 | Arina Puzriakova Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.85 | ASCC3 | Arina Puzriakova Tag gene-checked was removed from gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC3 | Achchuthan Shanmugasundram reviewed gene: ASCC3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASCC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.1 | ASCC3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASCC3 | Rebecca Foulger reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ASCC3 |
Rebecca Foulger gene: ASCC3 was added gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992 Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments |
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