HIBCH

3-hydroxyisobutyryl-CoA hydrolase
OMIM: 610690, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green HIBCH in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Green HIBCH in Mitochondrial disease Level 2: Metabolic disorders Version 0.970 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green HIBCH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HIBCH in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Green HIBCH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Leigh syndrome MONDO:0009723
Green HIBCH in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Paroxysmal dyskinesia (exercise induced or without clear trigger isolated or with additional features mitochondrial disorder (Leigh syndrome) neurodevelopmental disability epilepsy.
Green HIBCH in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Green HIBCH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Red HIBCH in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Neurodegeneration, progressive infantile
Green HIBCH in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Green HIBCH in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Green HIBCH in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Green HIBCH in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620 Tags treatable metabolic
Green HIBCH in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)