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| DDG2P v3.12 | TRPV4 | Achchuthan Shanmugasundram reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20425821, 19232556, 20577006, 21964829; Phenotypes: METATROPIC DYSPLASIA, OMIM:156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRPV4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TRPV4 was changed from Other - please provide details in the comments to Other Publications for gene: TRPV4 were updated from 20577006; 20425821; 21964829; 19232556 to 20425821; 19232556; 20577006; 21964829 |
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| DDG2P v0.2 | TRPV4 | Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRPV4 |
Rebecca Foulger Added phenotypes METATROPIC DYSPLASIA 156530 for gene: TRPV4 Publications for gene TRPV4 were changed from 20577006; 19232556 to 20577006; 20425821; 21964829; 19232556 |
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| DDG2P v0.1 | TRPV4 |
Rebecca Foulger gene: TRPV4 was added gene: TRPV4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20577006; 19232556 Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 Mode of pathogenicity for gene: TRPV4 was set to Other - please provide details in the comments |
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