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Amelogenesis imperfecta v2.16 | LTBP3 |
Eleanor Williams changed review comment from: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants. Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.; to: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants. Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia phenotypes and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance. |
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Amelogenesis imperfecta v2.16 | LTBP3 | Eleanor Williams commented on gene: LTBP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v2.16 | LTBP3 | Eleanor Williams Publications for gene: LTBP3 were set to 25669657; 28084688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v2.15 | LTBP3 | Eleanor Williams Phenotypes for gene: LTBP3 were changed from Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia to Dental anomalies and short stature, OMIM:601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta | LTBP3 | Sarah Leigh marked LTBP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta | LTBP3 | Rebecca Foulger classified LTBP3 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta | LTBP3 | Rebecca Foulger commented on LTBP3 |