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Severe Paediatric Disorders v0.17 | COL11A2 | Louise Daugherty Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | COL11A2 | Louise Daugherty reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | COL11A2 | Louise Daugherty Publications for gene COL11A2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | COL11A2 | Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL11A2 | Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL11A2 | Louise Daugherty Added phenotypes Fibrochondrogenesis 2, 614524; Deafness, autosomal dominant 13, 601868; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal recessive 53, 609706; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | COL11A2 | Louise Daugherty Added phenotypes Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840; Deafness, autosomal dominant 13, 601868 for gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | COL11A2 | Louise Daugherty Source Next Generation Children Project was added to COL11A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | COL11A2 |
Louise Daugherty Source Expert Review Green was added to COL11A2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | COL11A2 |
Louise Daugherty gene: COL11A2 was added gene: COL11A2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL11A2 was set to |