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| DDG2P v3.12 | FIG4 | Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FIG4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FIG4. Publications for gene: FIG4 were updated from 2319578; 7496176; 23623387 to 17572665; 23623387; 7496176; 34899148; 30740813; 2319578 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | FIG4 | Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FIG4 |
Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4 Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387 |
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| DDG2P v0.1 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 |
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