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| DDG2P v3.12 | FRMD7 | Achchuthan Shanmugasundram reviewed gene: FRMD7: Rating: RED; Mode of pathogenicity: ; Publications: 17397053, 16240070, 17962394, 18087240, 19072571, 21746984, 17013395, 25678693; Phenotypes: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FRMD7 |
Achchuthan Shanmugasundram Source Expert Review Red was added to FRMD7. Publications for gene: FRMD7 were updated from 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 to 16240070; 17962394; 18087240; 17013395; 19072571; 21746984; 17397053; 25678693 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v0.2 | FRMD7 | Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FRMD7 |
Rebecca Foulger gene: FRMD7 was added gene: FRMD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMD7 were set to 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 |
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