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Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Marked gene: EXOC6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Publications for gene: EXOC6B were set to 26669664; 30284759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple joint dislocations and laxity v0.5 | EXOC6B | Bryony Thompson reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26669664, 30284759, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple joint dislocations and laxity v0.1 | EXOC6B |
Tiong Tan Source Victorian Clinical Genetics Services was added to EXOC6B. Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395 for gene: EXOC6B |
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Multiple joint dislocations and laxity v0.0 | EXOC6B |
Tiong Tan gene: EXOC6B was added gene: EXOC6B was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC6B were set to 26669664; 30284759 Phenotypes for gene: EXOC6B were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395 |