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| Mendeliome v2.192 | USP34 | Sarah Milton Classified gene: USP34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.192 | USP34 | Sarah Milton Gene: usp34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.192 | USP34 | Sarah Milton Classified gene: USP34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.192 | USP34 | Sarah Milton Gene: usp34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.191 | USP34 |
Sarah Milton gene: USP34 was added gene: USP34 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: USP34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP34 were set to 42315110; 39117575 Phenotypes for gene: USP34 were set to Neurodevelopmental disorder, MONDO:0700092-USP34 related Review for gene: USP34 was set to GREEN Added comment: USP34 encodes a deubiquitinating enzyme that stabilises Axin and positively regulates canonical Wnt/β‑catenin signalling. The gene lies within a known recurrent deletional syndrome - 2p15p16.1 region, ISCA-37408. PMID: 42315110 reports six unrelated individuals with heterozygous de novo loss‑of‑function USP34 variants presenting with a neurodevelopmental disorder characterised by global developmental delay, speech impairment and autism. USP34 is highly constrained for loss of function with few NMD predicted variants present in the population database gnomAD. PMID: 39117575 reports a de novo heterozygous NMD predicted variant in USP34 in a fetus diagnosed with agenesis of the corpus callosum, as of 3 years of age the child had normal development. No other contradictory evidence has been published. Sources: Literature |
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