Possible mitochondrial disorder - nuclear genes
Gene: HMGCL
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450
Added from Intellectual disability panel update as this gene is also relevant to theMitochondrial disorders panel. This is a Confirmed disease gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency. Grunert (2017) PMID: 28583327 reviewed the clinical presentation and outcome in a series of 37 patients with HMGCLD. 10 had no further metabolic decompensations after diagnosis, and 22 had at least one more metabolic crisis, most often associated with infections, especially gastroenteritis or respiratory tract infections. Half of the patients had normal cognitive development, and the remainder had psychomotor deficits of variable severity.Created: 18 Dec 2017, 4:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450; 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMGCLD; intellectual disability
Publications
Source: Expert Review Green was removed from gene: HMGCL
gene: HMGCL was added gene: HMGCL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450