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DDG2P v3.12 | FLNB | Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | FLNB | Achchuthan Shanmugasundram Publications for gene: FLNB were updated from 14991055 to 18386804; 18257094; 14991055; 16801345 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | FLNB | Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | FLNB | Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 1 108720 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 3 108721 for gene: FLNB Publications for gene FLNB were changed from 14991055; 16801345 to 14991055 |
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DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345 |
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DDG2P v0.1 | FLNB | Rebecca Foulger Added phenotypes BOOMERANG DYSPLASIA 112310 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLNB were set to 18257094; 14991055; 18386804 Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 |