| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_Isolated v1.67 | IKZF2 | Ain Roesley Marked gene: IKZF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.67 | IKZF2 | Ain Roesley Gene: ikzf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.67 | IKZF2 | Ain Roesley Classified gene: IKZF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.67 | IKZF2 | Ain Roesley Gene: ikzf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.66 | IKZF2 |
Ain Roesley gene: IKZF2 was added gene: IKZF2 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF2 were set to PMID: 39406892 Phenotypes for gene: IKZF2 were set to nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related Review for gene: IKZF2 was set to GREEN gene: IKZF2 was marked as current diagnostic Added comment: 3 families with isolated hearing loss + missense variants located within the DNA binding domain (ZF2 and ZF3 motifs). One other missense reported in the same region in an individual with syndromic hearing loss Variants segregated in all 3 families except for family A where the father's twin sister had milder hearing loss and is WT/WT protein expression and ability to repress IL2 expression via luciferase assay were conducted, demonstrating LoF Sources: Literature |
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