| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bone Marrow Failure v1.22 | VPS45 | Zornitza Stark Tag treatable tag was added to gene: VPS45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.41 | VPS45 | Zornitza Stark Marked gene: VPS45 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.41 | VPS45 | Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.41 | VPS45 | Zornitza Stark Classified gene: VPS45 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.41 | VPS45 | Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.40 | VPS45 |
Zornitza Stark gene: VPS45 was added gene: VPS45 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS45 were set to 23599270; 23738510 Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Review for gene: VPS45 was set to GREEN gene: VPS45 was marked as current diagnostic Added comment: Same homozygous missense variant, p.Thr224Asn, identified in 6 Middle Eastern families. A different variant, p.Glu238Lys, identified in another family. Zebrafish model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||