Likely inborn error of metabolism - targeted testing not possible
Gene: HADH
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.Created: 15 Aug 2019, 10:43 a.m. | Last Modified: 15 Aug 2019, 10:43 a.m.
Panel Version: 1.146
Comment on phenotypes: Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)Created: 15 Aug 2019, 10:16 a.m. | Last Modified: 15 Aug 2019, 10:16 a.m.
Panel Version: 1.144
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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Gene: hadh has been classified as Green List (High Evidence).
Publications for gene: HADH were set to 27604308
Phenotypes for gene: HADH were changed from Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975
Source NHS GMS was added to HADH. Source London North GLH was added to HADH.
Sarah Leigh: Associated with relevant pheno
gene: HADH was added gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 27604308 Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)