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| Mendeliome v1.3642 | ZNF334 | Zornitza Stark Marked gene: ZNF334 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3642 | ZNF334 | Zornitza Stark Gene: znf334 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3549 | ZNF334 |
Sarah Milton gene: ZNF334 was added gene: ZNF334 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF334 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF334 were set to PIMD: 41168503 Phenotypes for gene: ZNF334 were set to Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related Review for gene: ZNF334 was set to RED Added comment: ZNF334 encodes zinc finger protein 334 and function is not clearly defined. PMID: 41168503 describes 1 individual with late onset cold induced autoinflammatory disease (urticaria, fever, arthralgia, lymphadenopathy, onset 40 yo) and progressive SNHL. Functional studies indicated reduced interaction ZNF334 and HSP90 (a cold stress regulator protein), monocytic cells lines with truncated ZNF344 showed enhanced cold induced TNF/NFKB1/NLRP3/STAT3 signalling. This variant was truncating NMD escape, however the gene has pLI = 0. Further literature is required. Sources: Literature |
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