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| DDG2P v5.3 | PLS3 | Achchuthan Shanmugasundram reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35752817, 28777485, 28748388, 29736964, 38043102, 37751738, 28620780, 25209159, 24616189, 24088043; Phenotypes: PLS3-related osteoporosis with fractures, OMIM:300910, PLS3-related diaphragmatic hernia and body-wall defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | PLS3 |
Achchuthan Shanmugasundram gene: PLS3 was added gene: PLS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLS3 were set to 24088043; 37751738; 29736964; 25209159; 38043102; 35752817; 24616189; 28620780; 28777485; 28748388 Phenotypes for gene: PLS3 were set to PLS3-related diaphragmatic hernia and body-wall defects; PLS3-related osteoporosis with fractures, OMIM:300910 |
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