| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis imperfecta v2.32 | SUCO | Eleanor Williams Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta; skeletal dysplasia; osteopenia to Osteogenesis imperfecta, MONDO:0019019; skeletal dysplasia, HP:0002652; osteopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.31 | SUCO | Eleanor Williams Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta; skeletal dysplasia; osteopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.30 | SUCO | Eleanor Williams Classified gene: SUCO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.30 | SUCO | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. 1 case plus supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.30 | SUCO | Eleanor Williams Gene: suco has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.29 | SUCO | Eleanor Williams reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: 29620724, 20440000; Phenotypes: skeletal dysplasia, osteopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.23 | SUCO |
Zornitza Stark gene: SUCO was added gene: SUCO was added to Osteogenesis imperfecta. Sources: Literature Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCO were set to 29620724; 20440000 Phenotypes for gene: SUCO were set to Osteogenesis imperfecta Review for gene: SUCO was set to AMBER Added comment: A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures. Sources: Literature |
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