| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bone Marrow Failure v1.79 | TBXAS1 | Zornitza Stark Marked gene: TBXAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | TBXAS1 | Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.71 | TBXAS1 | Chirag Patel Classified gene: TBXAS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.71 | TBXAS1 | Chirag Patel Gene: tbxas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.70 | TBXAS1 |
Chirag Patel gene: TBXAS1 was added gene: TBXAS1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBXAS1 were set to PMID: 18264100 Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM#231095 Review for gene: TBXAS1 was set to GREEN gene: TBXAS1 was marked as current diagnostic Added comment: Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Cases with severe anemia, leukopenia, thrombocytopenia, and hypocellular bone marrow. Sources: Expert list |
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