| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.540 | ZNF536 | Zornitza Stark Marked gene: ZNF536 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.540 | ZNF536 | Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.540 | ZNF536 | Zornitza Stark Classified gene: ZNF536 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.540 | ZNF536 | Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.539 | ZNF536 |
Zornitza Stark gene: ZNF536 was added gene: ZNF536 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF536 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF536 were set to 42697193 Phenotypes for gene: ZNF536 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF536-related Review for gene: ZNF536 was set to GREEN Added comment: PMID 42697193 reports 21 affected individuals with 18 unique, rare, heterozygous, protein-altering ZNF536 variants. Most variants (15/18) were predicted loss-of-function (LoF) alleles, with the remainder being missense variants. Among families with available inheritance data (17/20), most variants arose de novo (12/17), while others were inherited from mosaic or mildly affected parents (5/17). Affected individuals presented with developmental delay, autism spectrum disorder, intellectual disability, hyperactivity, aggressive behavior, anxiety, and hyperphagia; epilepsy and sleep disturbances were also frequently observed. Homozygous mice with a Zfp536p.Gln169Ter knock-in were non-viable, while heterozygotes survived but displayed autism-like behaviours, increased anxiety, and impaired recognition memory. Embryonic brain analysis revealed reduced cortical size, cortical thickness, and decreased deep-layer neuronal density. Sources: Literature |
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