| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | SLC25A38 | Achchuthan Shanmugasundram reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM:205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A38 | Rebecca Foulger reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC25A38 |
Rebecca Foulger gene: SLC25A38 was added gene: SLC25A38 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 19412178 Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||