HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase
OMIM: 613898, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green HMGCL 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 HMG-CoA lyase deficiency, MIM# 246450 Tags treatable SV/CNV
Green HMGCL in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags treatable SV/CNV
Green HMGCL in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags treatable
Green HMGCL 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 HMG-CoA lyase deficiency MIM#246450 Tags treatable
Green HMGCL 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 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Tags treatable
Green HMGCL in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMG-CoA lyase deficiency, 246450 Tags treatable
Green HMGCL 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 HMG-CoA lyase deficiency, 246450 (3)
Green HMGCL 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 3-hydroxy-3-methylglutaric aciduria
Green HMGCL in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green HMGCL in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA lyase deficiency, MIM# 246450
Green HMGCL in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Tags treatable
Green HMGCL in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes 3-hydroxy-3-methylglutaric aciduria, MIM#246450 Tags treatable metabolic
Green HMGCL in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA lyase deficiency, MIM# 246450