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| Skeletal dysplasia v2.165 | LPIN2 | Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 to Majeed syndrome, OMIM:609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | LPIN2 |
Eleanor Williams Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: LPIN2 Publications for gene LPIN2 were changed from to 29912021 |
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| Skeletal dysplasia v1.147 | LPIN2 | Tracy Lester reviewed gene: LPIN2: Rating: GREEN; 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 | LPIN2 | Eleanor Williams reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LPIN2 |
Eleanor Williams Source NHS GMS was added to LPIN2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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