Activity
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6 actions
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| RASopathies v1.83 | MAP4K4 | Arina Puzriakova Tag gene-checked tag was added to gene: MAP4K4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.83 | MAP4K4 | Arina Puzriakova Publications for gene: MAP4K4 were set to PMID: 37126546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.82 | MAP4K4 | Arina Puzriakova Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.82 | MAP4K4 | Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to rate as Green - at least 26 individuals from 21 families reported with Rasopathy-like phenotype (PMID: 37126546) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.82 | MAP4K4 | Arina Puzriakova Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.78 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to RASopathies. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4. Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects." Sources: Literature |
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