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Severe Paediatric Disorders v0.12 | MMP13 | Louise Daugherty reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MMP13 | Louise Daugherty Publications for gene MMP13 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MMP13 | Louise Daugherty Mode of inheritance for gene MMP13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MMP13 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MMP13 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MMP13 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MMP13 | Louise Daugherty Added phenotypes Metaphyseal anadysplasia 1, 602111; Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MMP13 | Louise Daugherty Source Next Generation Children Project was added to MMP13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MMP13 |
Louise Daugherty Source Expert Review Green was added to MMP13. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MMP13 |
Louise Daugherty gene: MMP13 was added gene: MMP13 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MMP13 was set to |