| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | SLC37A4 | Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758626, 21629566, 28224773, 9428641, 24385852, 31617422, 31508908, 33728255, 32005221, 19579760, 25804016, 33964207; Phenotypes: SLC37A4-related congenital disorder of glycosylation with liver dysfunction, Glycogen storage disease Ib, OMIM:232220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC37A4 |
Achchuthan Shanmugasundram gene: SLC37A4 was added gene: SLC37A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC37A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 9758626; 21629566; 28224773; 9428641; 24385852; 31617422; 31508908; 33728255; 32005221; 19579760; 25804016; 33964207 Phenotypes for gene: SLC37A4 were set to SLC37A4-related congenital disorder of glycosylation with liver dysfunction; Glycogen storage disease Ib, OMIM:232220 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||