Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 SLC39A13 Achchuthan Shanmugasundram reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513683, 18985159; Phenotypes: EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA, OMIM:612350, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION, OMIM:601668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.2 SLC39A13 Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SLC39A13 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350 for gene: SLC39A13
Publications for gene SLC39A13 were changed from to 18513683; 18985159
DDG2P v0.1 SLC39A13 Rebecca Foulger gene: SLC39A13 was added
gene: SLC39A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668