| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.222 | LAMA5 | Zornitza Stark Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.221 | LAMA5 | Zornitza Stark reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bent bone dysplasia syndrome 2, MIM# 620076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.104 | LAMA5 | Bryony Thompson Marked gene: LAMA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.104 | LAMA5 | Bryony Thompson Gene: lama5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.104 | LAMA5 |
Bryony Thompson gene: LAMA5 was added gene: LAMA5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 33242826 Phenotypes for gene: LAMA5 were set to Bent bone dysplasia Review for gene: LAMA5 was set to RED Added comment: A single family with 3 affected siblings with biallelic variants, and some supporting in vitro functional assays. Sources: Literature |
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