| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Marked gene: LEF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.3 | LEF1 |
Zornitza Stark gene: LEF1 was added gene: LEF1 was added to Radial Ray Abnormalities. Sources: Literature Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LEF1 were set to 35583550 Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related Review for gene: LEF1 was set to GREEN Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. Sources: Literature |
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