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| Mendeliome v1.3480 | AGBL3 | Bryony Thompson Marked gene: AGBL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3480 | AGBL3 | Bryony Thompson Gene: agbl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3480 | AGBL3 |
Bryony Thompson gene: AGBL3 was added gene: AGBL3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AGBL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGBL3 were set to 41042736 Phenotypes for gene: AGBL3 were set to Hypocomplementemic urticarial vasculitis MONDO:0018227 Review for gene: AGBL3 was set to RED Added comment: PMID:41042736 reports one patient from a single consanguineous family with biallelic loss‑of‑function AGBL3 variant presenting with hypocomplementemic urticarial vasculitis syndrome, childhood‑onset fever, urticarial rash, arthralgia, and low complement levels. Sources: Literature |
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