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| DDG2P v3.12 | BRAF | Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BRAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262 |
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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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| DDG2P v2.60 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRAF | Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BRAF |
Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 for gene: BRAF Publications for gene BRAF were changed from 19206169 to 18042262; 16474404; 16372351 |
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| DDG2P v0.1 | BRAF | Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 613707 for gene: BRAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 19206169 Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706 Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments |
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