Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACAD9 gene ACAD9 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADSB gene ACADSB Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria MIM#610006 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 11013134;17945527;30730842 False 3 100;0;0 1.14 True ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, MIM# 201475 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750;Deficiency of acetyl-CoA acetyltransferase;Beta-ketothiolase deficiency MONDO:0008760 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 17236799;1715688 False 3 100;0;0 1.14 True ENSG00000075239 ENSG00000075239 HGNC:93 CPT1A gene CPT1A Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, MIM# 255120 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 12189492 False 3 100;0;0 1.14 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile 600649;CPT II deficiency, lethal neonatal 608836;CPT II deficiency, myopathic, stress-induced 255110 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000157184 ENSG00000157184 HGNC:2330 ECHS1 gene ECHS1 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 31399326;25125611;25393721 False 3 100;0;0 1.14 True ENSG00000127884 ENSG00000127884 HGNC:3151 ETFA gene ETFA Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM# 231680 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, MIM# 231680 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM# 231680 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Ethylmalonic encephalopathy, MIM# 602473" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 18593870 False 3 100;0;0 1.14 True ENSG00000105755 ENSG00000105755 HGNC:23287 FLAD1 gene FLAD1 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 25058219;27259049;16643857;20060505;30061063;30982706;30311138;31392824;30427553 False 3 0;100;0 1.14 True ENSG00000160688 ENSG00000160688 HGNC:24671 GLUD1 gene GLUD1 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 11214910;11297618 False 3 100;0;0 1.14 True ENSG00000148672 ENSG00000148672 HGNC:4335 HADH gene HADH Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975;SCHAD deficiency, MONDO:0009278 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, MIM# 609016 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, MIM# 609015 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 30682426;28515471 False 3 100;0;0 1.14 True ENSG00000138029 ENSG00000138029 HGNC:4803 HMGCL gene HMGCL Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, MIM# 246450 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 8617516 False 3 100;0;0 1.14 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, MIM# 605911 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 33045405 False 3 100;0;0 1.14 True ENSG00000134240 ENSG00000134240 HGNC:5008 HSD17B10 gene HSD17B10 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, MIM# 300438 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000072506 ENSG00000072506 HGNC:4800 LPIN1 gene LPIN1 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 18817903;32549891;32522502;32410653 False 3 100;0;0 1.14 True ENSG00000134324 ENSG00000134324 HGNC:13345 MLYCD gene MLYCD Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM# 248360 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 12955715 False 3 100;0;0 1.14 True ENSG00000103150 ENSG00000103150 HGNC:7150 NADK2 gene NADK2 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "2,4-dienoyl-CoA reductase deficiency, MIM# 616034" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 24847004;27940755;23212377;28923496 False 3 100;0;0 1.14 True ENSG00000152620 ENSG00000152620 HGNC:26404 OXCT1 gene OXCT1 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 8751852;10964512;28178565;11757586;8844009 False 3 100;0;0 1.14 True ENSG00000083720 ENSG00000083720 HGNC:8527 SLC22A5 gene SLC22A5 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM# 212140 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 15363639;15365988;24088670 False 3 100;0;0 1.14 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC52A2 gene SLC52A2 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Brown-Vialetto-Van Laere syndrome 2, MIM# 614707" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Brown-Vialetto-Van Laere syndrome 1, MIM# 211530" Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000101276 ENSG00000101276 HGNC:16187 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 3 100;0;0 1.14 True ENSG00000102125 ENSG00000102125 HGNC:11577 ACADS gene ACADS Expert Review Amber;Victorian Clinical Genetics Services Fatty Acid Oxidation Defects Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Abnormal circulating fatty acid concentration;HP:0004359; Rhabdomyolysis;HP:0003201; Hypoglycaemia;HP:0001943 False 2 0;100;0 1.14 True ENSG00000122971 ENSG00000122971 HGNC:90