Activity
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6 actions
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| DDG2P v6.213 | IRX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IRX5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IRX5 | Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility are strong, biallelic_autosomal and undetermined (PMIDs: 22581230, 34899143). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00994.; Changed publications to: 34899143, 22581230; Changed phenotypes to: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174, OMIM:611174.0, IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRX5 | Achchuthan Shanmugasundram reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IRX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IRX5. Mode of pathogenicity for gene IRX5 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 v0.2 | IRX5 | Rebecca Foulger reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments |
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