HADHA

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
OMIM: 600890, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red HADHA in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 Mitochondrial trifunctional protein deficiency, MIM# 609015
Green HADHA in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 Tags treatable
Red HADHA in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes LCHAD deficiency, MIM# 609016
Green HADHA in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 MONDO:0012173 Tags treatable
Green HADHA in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green HADHA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173 Tags treatable
Green HADHA in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency MIM#609015 Tags treatable
Green HADHA in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green HADHA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fatty liver, acute, of pregnancy, 609016 (3)
Green HADHA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Trifunctional protein deficiency 609015 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Mitochondrial Trifunctional Protein deficiency Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism HCM Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Tags treatable
Green HADHA in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency
Green HADHA in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial trifunctional protein deficiency, MIM# 609015 Tags treatable
Green HADHA in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency 609015 Tags treatable
Green HADHA in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes LCHAD deficiency, MIM# 609016
Green HADHA in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency 1 MIM#609015
Green HADHA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Mitochondrial trifunctional protein deficiency, MIM#609015 LCHAD deficiency, MIM# 609016 Tags treatable metabolic
Green HADHA in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency 1 MIM#609015