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| Mendeliome v1.2844 | MAP4K1 | Zornitza Stark Marked gene: MAP4K1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2844 | MAP4K1 | Zornitza Stark Gene: map4k1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2844 | MAP4K1 | Zornitza Stark Classified gene: MAP4K1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2844 | MAP4K1 | Zornitza Stark Gene: map4k1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2843 | MAP4K1 |
Zornitza Stark gene: MAP4K1 was added gene: MAP4K1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: MAP4K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K1 were set to 40716650 Phenotypes for gene: MAP4K1 were set to Inborn error of immunity, MONDO:0003778, MAP4K1-related Review for gene: MAP4K1 was set to GREEN Added comment: Heterozygous MAP4K1 loss-of-function variants were identified in two kindreds presenting with diverse immune dysregulatory symptoms, including recurrent fevers, inflammatory arthritis, EBV-related complications, and nephritis. Functional analysis of primary patient T cells, transcriptomics, and CRISPR-Cas9 editing demonstrated that HPK1 deficiency heightened T cell activation and inflammatory cytokine production. Penetrance was incomplete. One of the families was multiplex (8 affected individuals) and the other had single individual affected, extensive functional data. Borderline Amber/Green. Sources: Expert Review |
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