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| Osteogenesis Imperfecta and Osteoporosis v2.0 | SUCO | Gene migrated from ENSG00000094975 to ENSG00000094975 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.16 | SUCO | Zornitza Stark Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta, MONDO:0019019, SUCO-related to Syndromic disease (MONDO:0002254), SUCO-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.15 | SUCO | Zornitza Stark Publications for gene: SUCO were set to 29620724; 20440000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.14 | SUCO | Zornitza Stark Classified gene: SUCO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.14 | SUCO | Zornitza Stark Gene: suco has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.13 | SUCO | Zornitza Stark edited their review of gene: SUCO: Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.; Changed rating: GREEN; Changed publications: 20440000, 41282771; Changed phenotypes: Syndromic disease (MONDO:0002254), SUCO-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.8 | SUCO | Zornitza Stark Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, SUCO-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.7 | SUCO | Zornitza Stark reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, MONDO:0019019, SUCO-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Marked gene: SUCO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Classified gene: SUCO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.62 | SUCO |
Bryony Thompson gene: SUCO was added gene: SUCO was added to Osteogenesis Imperfecta. Sources: Expert list 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: Expert list |
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