Activity
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7 actions
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| DDG2P v6.419 | CYHR1 | Achchuthan Shanmugasundram changed review comment from: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1.; to: The 'new-gene-symbol' tag has been added as the HGNC approved official gene symbol for CYHR1 is ZFTRAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.419 | CYHR1 | Achchuthan Shanmugasundram commented on gene: CYHR1: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.419 | CYHR1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CYHR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.419 | CYHR1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYHR1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CYHR1 | Achchuthan Shanmugasundram edited their review of gene: CYHR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFTRAF1-related neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:38641995). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03563.; Changed phenotypes to: ZFTRAF1-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CYHR1 | Achchuthan Shanmugasundram reviewed gene: CYHR1: Rating: RED; Mode of pathogenicity: Other; Publications: 38641995; Phenotypes: ZFTRAF1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | CYHR1 |
Achchuthan Shanmugasundram gene: CYHR1 was added gene: CYHR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYHR1 were set to 38641995 Phenotypes for gene: CYHR1 were set to ZFTRAF1-related neurodevelopmental disorder Mode of pathogenicity for gene: CYHR1 was set to Other |
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