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| DDG2P v3.12 | LARGE1 | Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LARGE1 | Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARGE1 | Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LARGE1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 for gene: LARGE1 Publications for gene LARGE1 were changed from 19299310; 19067344; 17436019 to 12966029; 21248746 |
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| DDG2P v0.1 | LARGE1 |
Rebecca Foulger gene: LARGE1 was added gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019 Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 |
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