Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Likely inborn error of metabolism - targeted testing not possible v1.47 | SARDH |
Ivone Leong Source NHS GMS was added to SARDH. Source London North GLH was added to SARDH. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SARDH |
Ellen McDonagh gene: SARDH was added gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 27604308 Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) |