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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)
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