HADH

hydroxyacyl-CoA dehydrogenase
OMIM: 601609, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green HADH in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 SCHAD deficiency, MONDO:0009278
Red HADH in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Green HADH in Hyperinsulinism Level 2: Endocrine disorders Version 1.49	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Green HADH in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Green HADH in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Red HADH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Green HADH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Green HADH in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Hyperinsulinemic hypoglycemia, familial, 4
Red HADH in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Green HADH in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Green HADH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene BeginNGS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Tags treatable metabolic
Green HADH in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530