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| Skeletal dysplasia v0.329 | LEMD2 | Bryony Thompson Classified gene: LEMD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.329 | LEMD2 | Bryony Thompson Gene: lemd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.328 | LEMD2 |
Bryony Thompson gene: LEMD2 was added gene: LEMD2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LEMD2 were set to 38757373; 37867468; 30905398 Phenotypes for gene: LEMD2 were set to Marbach-Rustad progeroid syndrome MONDO:0859147 Review for gene: LEMD2 was set to GREEN Added comment: 4 unrelated cases with the recurrent de novo missense variant (c.1436C>Tp.Ser479Phe) and a progeroid syndrome phenotype. In vitro functional assays demonstrate abnormalities in the structure of the nuclear envelope in the tested tissues. Sources: Literature |
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