| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis imperfecta v1.48 | NUDT6 | Eleanor Williams Classified gene: NUDT6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.48 | NUDT6 | Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it was decided to rate this gene amber until there is more evidence for an association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.48 | NUDT6 | Eleanor Williams Gene: nudt6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.19 | NUDT6 | Duncan Baker commented on gene: NUDT6: Request from Dr Meena Balasubramian - plausible to cause bone fragility, add to panel if possible | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.18 | NUDT6 | Eleanor Williams edited their review of gene: NUDT6: Added comment: This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NUDT6; Suggested initial gene rating: amber; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.17 | NUDT6 | Eleanor Williams commented on gene: NUDT6: PubMed search did not find any other reports of NUDT6 in association with an Osteogenesis imperfecta phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.17 | NUDT6 | Eleanor Williams commented on gene: NUDT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.17 | NUDT6 |
Eleanor Williams Source NHS GMS was added to NUDT6. Rating Changed from No List (delete) to Red List (low evidence) |
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| Osteogenesis imperfecta v1.16 | NUDT6 |
Duncan Baker gene: NUDT6 was added gene: NUDT6 was added to Osteogenesis imperfecta. Sources: Expert list Mode of inheritance for gene: NUDT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT6 were set to Essawi et al A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta. Phenotypes for gene: NUDT6 were set to recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis. Review for gene: NUDT6 was set to AMBER Added comment: New gene, one report linking to OI phenotype. Sources: Expert list |
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