Activity
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| Osteogenesis imperfecta v2.47 | COL1A2 |
Eleanor Williams Added comment: Comment on mode of inheritance: In OMIM this gene is associated with 4 Osteogenesis imperfecta phenotypes, all of which are listed with an autosomal dominant mode of inheritance. The gene is associated with Ehlers-Danlos syndrome, cardiac valvular type with a autosomal recessive mode of inheritance but this does not appear to affect the bones. Therefore, monoallelic is the appropriate mode of inheritance for this gene on this panel. |
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| Osteogenesis imperfecta v2.47 | COL1A2 | Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.19 | COL1A2 | Duncan Baker reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.18 | COL1A2 | Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.17 | COL1A2 |
Eleanor Williams Source NHS GMS was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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