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8 actions
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| DDG2P v6.242 | MAP4K4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP4K4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAP4K4 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: MAP4K4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAP4K4 | Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and loss of function (PMIDs: 28518170, 36469137, 37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03550. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMID:37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03716.; Changed publications to: 28518170, 36469137, 37126546; Changed phenotypes to: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies, MONDO:0100038, MAP4K4-related neurodevelopmental disorder with or without congenital anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.12 | MAP4K4 | Arina Puzriakova Tag gene-checked tag was added to gene: MAP4K4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.12 | MAP4K4 | Arina Puzriakova Publications for gene: MAP4K4 were set to 36469137; 28518170; PMID: 37126546; 37126546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | MAP4K4 | Achchuthan Shanmugasundram reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36469137, 28518170, 37126546; Phenotypes: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | MAP4K4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4. Source DD-Gene2Phenotype was added to MAP4K4. Mode of inheritance for gene MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies for gene: MAP4K4 Publications for gene: MAP4K4 were updated from PMID: 37126546 to 36469137; 28518170; PMID: 37126546; 37126546 Rating Changed from No List (delete) to Green List (high evidence) |
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| DDG2P v3.6 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to DDG2P. 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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