Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Likely inborn error of metabolism - targeted testing not possible v2.87 | HMGCS2 | Eleanor Williams Source: Expert Review Red was removed from gene: HMGCS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | HMGCS2 |
Ivone Leong Source NHS GMS was added to HMGCS2. Source London North GLH was added to HMGCS2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCS2 |
Ellen McDonagh gene: HMGCS2 was added gene: HMGCS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 27604308 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency |