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| Genomic screening in children: BabyScreen+ v0.49 | ZBTB24 | Lilian Rudd Marked gene: ZBTB24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.49 | ZBTB24 | Lilian Rudd Added comment: Comment when marking as ready: Red - on ID list for opt in . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.49 | ZBTB24 | Lilian Rudd Gene: zbtb24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.47 | ZBTB24 |
Lilian Rudd gene: ZBTB24 was added gene: ZBTB24 was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to PMID: 28128455, 21906047, 21596365, 23486536 Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 Review for gene: ZBTB24 was set to AMBER Added comment: Infant onset Agammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds. Treat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency. ?For childhood screening or just for ID opt in. Sources: Expert list |
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