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| Mendeliome v1.2085 | KAT2B | Ain Roesley Marked gene: KAT2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2085 | KAT2B | Ain Roesley Gene: kat2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2085 | KAT2B | Ain Roesley Phenotypes for gene: KAT2B were changed from steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related; cataract MONDO:0005129, KAT2B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2084 | KAT2B |
Ain Roesley gene: KAT2B was added gene: KAT2B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KAT2B were set to 39366742 Phenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Review for gene: KAT2B was set to RED gene: KAT2B was marked as current diagnostic Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant both have steroid-resistant nephrotic syndrome and bilateral cataract only 1 has FSGS Sources: Literature |
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