Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | ANKH | Achchuthan Shanmugasundram reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9915952, 12297989, 2712793, 13130483, 14322785, 8528213, 11326272, 8244341, 12297987, 20358596; Phenotypes: CHONDROCALCINOSIS 2, OMIM:118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE, OMIM:123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | ANKH | Achchuthan Shanmugasundram Publications for gene: ANKH were updated from 13130483; 8528213; 12297987; 8244341; 12297989; 9915952 to 9915952; 12297989; 12297987; 2712793; 13130483; 8528213; 11326272; 14322785; 8244341; 20358596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | ANKH | Rebecca Foulger reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | ANKH |
Rebecca Foulger Added phenotypes CHONDROCALCINOSIS 2 118600 for gene: ANKH Publications for gene ANKH were changed from 11326272; 14322785; 20358596; 2712793 to 13130483; 8528213; 12297987; 8244341; 12297989; 9915952 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | ANKH |
Rebecca Foulger gene: ANKH was added gene: ANKH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKH were set to 11326272; 14322785; 20358596; 2712793 Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000 |