| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.262 | GARS | Louise Daugherty Tag new-gene-name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.262 | GARS | Louise Daugherty commented on gene: GARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GARS | Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA for gene: GARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GARS |
Ellen McDonagh gene: GARS was added gene: GARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GARS were set to Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||