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| Mendeliome v1.4392 | ADGRE2 |
Bryony Thompson gene: ADGRE2 was added gene: ADGRE2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ADGRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRE2 were set to 26841242 Phenotypes for gene: ADGRE2 were set to autosomal dominant vibratory urticaria MONDO:0007447 Mode of pathogenicity for gene: ADGRE2 was set to Other Review for gene: ADGRE2 was set to RED Added comment: A single family reported segregating a gain-of-function missense variant. Sources: Literature |
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