Activity
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2 actions
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| DDG2P v6.17 | RBCK1 | Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38922716, 38588043, 35017290, 38329383, 23798481, 38077957, 32187699; Phenotypes: RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency, MONDO:0014389, OMIM:615895.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | RBCK1 |
Achchuthan Shanmugasundram gene: RBCK1 was added gene: RBCK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 35017290; 38077957; 38329383; 38588043; 38922716; 32187699; 23798481 Phenotypes for gene: RBCK1 were set to RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency; MONDO:0014389; OMIM:615895.0 |
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