Activity
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| DDG2P v6.178 | GDF6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GDF6 | Achchuthan Shanmugasundram edited their review of gene: GDF6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF6-related oculo-skeletal syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 18425797, 19129173, 21070663, 25457163, 32737436). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00462.; Changed publications to: 21070663, 19129173, 25457163, 18425797, 32737436; Changed phenotypes to: OMIM:118100.0, GDF6 Oculo-Skeletal Syndrome, OMIM:118100, MONDO:0007306, GDF6-related oculo-skeletal syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF6 | Achchuthan Shanmugasundram reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18425797, 21070663, 32737436, 25457163, 19129173; Phenotypes: GDF6 Oculo-Skeletal Syndrome, OMIM:118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GDF6 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173 |
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| DDG2P v0.2 | GDF6 | Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF6 |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 4 613094 for gene: GDF6 Publications for gene GDF6 were changed from 18425797; 19129173 to 19129173 |
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| DDG2P v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF6 were set to 18425797; 19129173 Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 118100 Mode of pathogenicity for gene: GDF6 was set to Other - please provide details in the comments |
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