| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bone Marrow Failure v1.118 | OSM | Bryony Thompson Marked gene: OSM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.118 | OSM | Bryony Thompson Gene: osm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.118 | OSM | Bryony Thompson Classified gene: OSM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.118 | OSM | Bryony Thompson Gene: osm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.117 | OSM |
Bryony Thompson gene: OSM was added gene: OSM was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: OSM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSM were set to 39847438; 40309776; 17118758 Phenotypes for gene: OSM were set to bone marrow failure syndrome MONDO:0000159 Review for gene: OSM was set to GREEN Added comment: 6 individuals with with OSM deficiency and an inherited severe bone marrow failure syndrome from 3 consanguineous families with 2 different homozygous LoF variants. Supporting zebrafish and mouse models. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||