Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ectodermal Dysplasia v0.23 | LSS | Bryony Thompson Marked gene: LSS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.23 | LSS | Bryony Thompson Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.23 | LSS | Bryony Thompson Classified gene: LSS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.23 | LSS | Bryony Thompson Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.22 | LSS |
Bryony Thompson gene: LSS was added gene: LSS was added to Ectodermal Dysplasia. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 30723320; 32101538 Phenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275 Review for gene: LSS was set to GREEN Added comment: Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts. Sources: Literature |