Clinical Domain Working Groups

The General Inborn Errors of Metabolism (IEM) GCEP will function as a GCEP for genes asserted to be involved in inborn errors of metabolism that are not currently being curated by any other GCEPs, including the existing IEM GCEPs (Aminoacidopathy, Fatty Acid Oxidation disorders, Peroxisomal disorders). Of note, the experts in the IEM GCEP have an extensive knowledge of a range of metabolic diseases. However, the experts will consult experts outside the group or invite additional experts to join the group should the need arise.

As such, this group will:

1) Curate and review genes for IEMs on the RUSP (Recommended Universal Screening Panel for newborns).

2) Curate and review genes for IEMs that do not currently come under the purview of another GCEP but for which there is a need for the curation to be completed and reviewed. 

3) Curate and review genes for subgroups of IEMs with a small number of gene/disorders (n<~10 curations; e.g. porphyria, disorders of bile acid synthesis, molybdenum metabolism, copper metabolism, etc) for which it would be inefficient to convene a specific GCEP.

Note that the IEM CDWG plans to form dedicated GCEPs for subgroups of metabolic disorders with a large number (i.e., >~10) of genes/disorders (e.g., Congenital Disorders of Glycosylation, and Carbohydrate Disorders), in addition to the current Fatty Acid Oxidation Disorders, Aminoacidopathies, and Peroxisomal disorders GCEPs.