Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | DSPP | Achchuthan Shanmugasundram reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: ; Publications: 18456718, 11175779, 11175790, 14758537; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, OMIM:605594, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, OMIM:125490; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DSP | Achchuthan Shanmugasundram reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DSP-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | DSPP | Achchuthan Shanmugasundram Publications for gene: DSPP were updated from 18456718; 11175790; 14758537; 11175779 to 18456718; 11175779; 11175790; 14758537 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | DSP |
Achchuthan Shanmugasundram gene: DSP was added gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSP were set to 33057194 Phenotypes for gene: DSP were set to DSP-related developmental disorder Mode of pathogenicity for gene: DSP was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.76 | DSPP | Eleanor Williams commented on gene: DSPP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.74 | DSPP | Dmitrijs Rots reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | DSPP | Rebecca Foulger reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DSPP |
Rebecca Foulger Added phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490 for gene: DSPP Publications for gene DSPP were changed from 11175790 to 18456718; 11175790; 14758537; 11175779 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DSPP | Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 for gene: DSPP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DSPP |
Rebecca Foulger gene: DSPP was added gene: DSPP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSPP were set to 11175790 Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 |