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| DDG2P v3.12 | MMP13 | Achchuthan Shanmugasundram reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 8412645; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMP13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP13 was changed from Other - please provide details in the comments to Other Publications for gene: MMP13 were updated from 8412645; 19615667 to 19615667; 8412645 |
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| DDG2P v1.54 | MMP13 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for METAPHYSEAL ANADYSPLASIA TYPE 1; monoallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE. Both diseases have a Confirmed Disease Confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.54 | MMP13 | Rebecca Foulger Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMP13 | Rebecca Foulger reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MMP13 | Rebecca Foulger Added phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MMP13 |
Rebecca Foulger gene: MMP13 was added gene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP13 were set to 8412645; 19615667 Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Mode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments |
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