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| Disorders of immune dysregulation v1.21 | MAP4K1 | Zornitza Stark Marked gene: MAP4K1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.21 | MAP4K1 | Zornitza Stark Gene: map4k1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.21 | MAP4K1 | Zornitza Stark Phenotypes for gene: MAP4K1 were changed from Immune dysregulation to Inborn error of immunity, MONDO:0003778, MAP4K1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.20 | MAP4K1 | Zornitza Stark Classified gene: MAP4K1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.20 | MAP4K1 | Zornitza Stark Gene: map4k1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.19 | MAP4K1 | Zornitza Stark changed review comment from: One multiplex family with 8 affected individuals and one family with single individual affected, extensive functional data.; to: One multiplex family with 8 affected individuals and one family with single individual affected, extensive functional data. Borderline Amber/Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.19 | MAP4K1 | Zornitza Stark reviewed gene: MAP4K1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, MAP4K1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.19 | MAP4K1 |
Peter McNaughton gene: MAP4K1 was added gene: MAP4K1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: MAP4K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K1 were set to PMID: 40716650 Phenotypes for gene: MAP4K1 were set to Immune dysregulation Penetrance for gene: MAP4K1 were set to Incomplete 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. Sources: Literature |
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