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| Skeletal dysplasia v1.153 | FBLIM1 |
Eleanor Williams Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: FBLIM1 Publications for gene FBLIM1 were changed from to 29912021 |
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| Skeletal dysplasia v1.147 | FBLIM1 | Tracy Lester reviewed gene: FBLIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29912021; Phenotypes: Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | FBLIM1 | Eleanor Williams reviewed gene: FBLIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | FBLIM1 |
Eleanor Williams gene: FBLIM1 was added gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: FBLIM1 was set to |
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