HADH

hydroxyacyl-CoA dehydrogenase
OMIM: 601609, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HADH in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Congenital hyperinsulinemic hypoglycemia (HH) Hyperinsulinism, Dominant/Recessive 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Protein sensitive hyperinsulinism
Red HADH in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert list
Green HADH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975
Green HADH in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975
Red HADH in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Hyperinsulinemic hypoglycemia, familial, 4, 609975 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Red HADH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green HADH in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
Red HADH in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperinsulinemic hypoglycemia, familial, 4, 609975 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Red HADH in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Hyperinsulinemic hypoglycemia, familial, 4, 609975
Red HADH in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH