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| Autoinflammatory Disorders v3.11 | DNAJC17 |
Peter McNaughton gene: DNAJC17 was added gene: DNAJC17 was added to Autoinflammatory Disorders. Sources: Literature Mode of inheritance for gene: DNAJC17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC17 were set to PMID: 42495638 Phenotypes for gene: DNAJC17 were set to Combined Immune deficiency; retinopathy; autoinflammation Review for gene: DNAJC17 was set to GREEN Added comment: 3 patients from 2x unrelated families with homozygous variant (c.681G>A; p.Ala227=) with molecular characterisation suggesting exon skipping and reduced but not absent DNAJC17 mRNA and protein expression supporting the hypothesis of hypomorphic rather than null function. Sources: Literature |
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