Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.
Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.