Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GNPTAB | Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 19197337, 16116615, 16465621, 16200072, 16094673, 15633164, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A, OMIM:252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GNPTAB | Achchuthan Shanmugasundram Publications for gene: GNPTAB were updated from 16094673; 15633164; 16116615; 19197337 to 19197337; 16116615; 16465621; 16200072; 16094673; 15633164; 34341521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | GNPTAB | Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GNPTAB |
Rebecca Foulger Added phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 for gene: GNPTAB Publications for gene GNPTAB were changed from 16200072; 16465621; 16116615 to 16094673; 15633164; 16116615; 19197337 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GNPTAB |
Rebecca Foulger gene: GNPTAB was added gene: GNPTAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 16200072; 16465621; 16116615 Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II 252500 |