Activity
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6 actions
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| DDG2P v6.133 | DDR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDR2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDR2 | Achchuthan Shanmugasundram edited their review of gene: DDR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type are definitive, biallelic_autosomal and undetermined (PMIDs: 19110212, 8434618). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00916.; Changed publications to: 8434618, 19110212; Changed phenotypes to: OMIM:271665.0, SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665, DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type, MONDO:0010077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDR2 | Achchuthan Shanmugasundram reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19110212, 8434618; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDR2 | Rebecca Foulger reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DDR2 |
Rebecca Foulger gene: DDR2 was added gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDR2 were set to 19110212; 8434618 Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments |
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