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| Mendeliome v2.310 | YBX3 |
Sangavi Sivagnanasundram gene: YBX3 was added gene: YBX3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: YBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YBX3 were set to 39423228; 38260399 Phenotypes for gene: YBX3 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: YBX3 was set to RED Added comment: PMID 39423228 reports 3 individuals with a heterozygous missense variant p.Asn127Tyr in YBX3. Two of the individuals were reported to have a neurological phenotype including ID, DD and seizures whilst the third individual presented with a complex metabolic phenotype with no neurological phenotype. p.Asn127Tyr is a rare variant (absent in gnomADv4.1) however there are no pathogenic reported variants in this gene in ClinVar and no Morbid entry. The gene is not constrained for missense variants or LoF. Both GDA are red given only one rare variant was reported in all three individuals. Sources: Literature |
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