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| Mendeliome v1.3109 | PLD4 | Krithika Murali Classified gene: PLD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3109 | PLD4 | Krithika Murali Gene: pld4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3108 | PLD4 |
Krithika Murali gene: PLD4 was added gene: PLD4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD4 were set to PMID:40931063 Phenotypes for gene: PLD4 were set to Systemic lupus erythematosus - MONDO:0007915, PLD4-related Review for gene: PLD4 was set to GREEN Added comment: PMID:40931063 Wang et al 2025 (Nature) - report 5 unrelated individuals with SLE and biallelic variants in PLD4. Variants were either PTC or missense variants that localised to the catalytic domain. Functional evidence supported LoF mechanism with the variants impairing PLD4 exonuclease activity resulting in aberrant type I IFN signalling activation. pld4-deficient mice had an autoimmune phenotype. Sources: Literature |
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