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| Skeletal dysplasia v1.162 | SLC10A7 | Eleanor Williams Phenotypes for gene: SLC10A7 were changed from skeletal dysplasia and amelogenesis imperfecta to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.161 | SLC10A7 | Eleanor Williams Publications for gene: SLC10A7 were set to 30082715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.160 | SLC10A7 | Eleanor Williams Classified gene: SLC10A7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.160 | SLC10A7 | Eleanor Williams Added comment: Comment on list classification: Upgrading to green as the are now 6 distinct families with identified variants in SLC10A7 and a relevant phenotype. Evidence also from zebrafish and mouse models. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.160 | SLC10A7 | Eleanor Williams Gene: slc10a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.159 | SLC10A7 | Eleanor Williams commented on gene: SLC10A7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.127 | SLC10A7 | Ellen McDonagh commented on gene: SLC10A7: This gene is not related to a disease in OMIM or Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.127 | SLC10A7 |
Ellen McDonagh gene: SLC10A7 was added gene: SLC10A7 was added to Unexplained skeletal dysplasia. Sources: Literature Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715 Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. Sources: Literature |
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